Colorado PROFILES, The Colorado Clinical and Translational Sciences Institute (CCTSI)
Keywords
Last Name
Institution

Shanlee M. Davis

TitleAssociate Professor
InstitutionUniversity of Colorado Denver - Anschutz Medical Campus
DepartmentSOM-PEDS
Phone720/777-6073

    Collapse Biography 
    Collapse education and training
    University of California - Davis, Davis, CABS, BA06/2006Biology, Psychology
    Mayo Clinic College of Medicine, Rochester, MNMD06/2010Medicine
    University of Colorado, Aurora, COMS08/2016Clinical Sciences
    University of Colorado, Aurora, CO06/2013Pediatric Residency
    University of Colorado, Aurora, CO06/2016Pediatric Endocrinology Fellowship
    Collapse awards and honors
    2019Junior Investigator Award, Women in Endocrinology
    2019George E Bacon Invited Lecturer, University of Michigan
    2019Mead Johnson Junior Faculty Award, Western Society for Pediatric Research
    2018Travel Award, Western Society for Clinical Investigation
    2017Clinical Scholar Award, Pediatric Endocrine Society
    2017Outstanding Abstrast Award, Endocrine Society
    2016Clinical Research Fellow Award, Society for Pediatric Research
    2016Scholar Fellow Award, Western Section of the American Federation for Medical Research
    2016Presidential Poster Award, Pediatric Endocrine Society
    2016Fellowship Travel Award, International Workshop on Klinefelter Syndrome
    2016Pediatric Research Day Fellow Poster Award, Children's Hospital Colorado
    2016Fellow Travel Award, Pediatric Endocrine Society
    2015Outstanding Abstract Award, Endocrine Society
    2015Fellow Travel Award, Pediatric Endocrine Society

    Collapse Overview 
    Collapse overview
    My broad research goals involve improving clinical outcomes in individuals affected by X & Y chromosome variations, including XXY / Klinefelter, XYY, Trisomy X, and Turner syndromes. I focus on studying the relationship between gonadal function and cardiometabolic health in these populations using a variety of research methods, including clinical trials, observational studies, secondary data analyses, surveys, and qualitative methods. Our research team collaborates with basic scientists and other researchers around the world who share the commitment to advancing knowledge for these common but understudied conditions.

    Collapse Research 
    Collapse research activities and funding
    R01DK133292     (DAVIS, SHANLEE)Jul 1, 2022 - Jun 30, 2025
    NIH
    Interrogating Fatty Acid Metabolism Impairment andClinical Correlates in Males with Klinefelter Syndrome
    Role: Principal Investigator
    R03HD102773     (DAVIS, SHANLEE)Sep 1, 2020 - Aug 31, 2022
    NIH
    Population Health in Pediatric Sex Chromosome Aneuploidies
    Role: Principal Investigator
    R01HD091251     (TARTAGLIA, NICOLE RENEE)Sep 6, 2017 - Mar 31, 2028
    NIH
    The eXtraordinarY Babies Study: Natural History of Health and Neurodevelopment in Infants with Sex Chromosome Trisomy
    Role: Co-Investigator
    K23HD092588     (DAVIS, SHANLEE)Sep 1, 2017 - Aug 31, 2022
    NIH
    TESTO: Testosterone Effects on Short-Term Outcomes in Infants with XXY
    Role: Principal Investigator
    Clinical Scholar Award     (Shanlee Davis)Jul 1, 2017 - Aug 30, 2018
    Pediatric Endocrine Society
    Energy Metabolism in Boys with Klinefelter Syndrome
    Role: Principal Investigator
    Fellow Research Award     (Shanlee Davis)Aug 1, 2016 - Jul 31, 2018
    Turner Syndrome Global Alliance
    Cardiometabolic Health of Adolescent Girls with Turner Syndrome
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
    List All   |   Timeline
    1. Davis SM, Howell S, Janusz J, Lahlou N, Reynolds R, Thompson T, Swenson K, Wilson R, Ross JL, Zeitler PS, Tartaglia NR. Testosterone Effects on Short-Term Physical, Hormonal, and Neurodevelopmental Outcomes (TESTO) in Infants with 47,XXY. J Clin Endocrinol Metab. 2025 Apr 03. PMID: 40177735.
      View in: PubMed
    2. Chen LM, Valentine A, Davis SM, Graber E, Fechner PY, Furniss A, Nahata L, Pyle L, Vyas AK, Vogiatzi MG, Nokoff NJ. Multicenter Analysis of Cardiometabolic-Related Diagnoses in Youth With Congenital Adrenal Hyperplasia: A PEDSnet Study. J Clin Endocrinol Metab. 2025 Mar 17; 110(4):e1009-e1016. PMID: 38783717.
      View in: PubMed
    3. Davis SM, Liu A, Teerlink CC, Lapato DM, Gorman B, Genovese G, Singh M, Reeve MP, Gentry AE, Donner KM, Sipil? TP, Ghazal A, Pagadala MS, Panizzon MS, Lancaster EE, Chatzinakos C, Ganna A, Bigdeli TB, Daly MJ, Lynch JA, Ross J, Peterson RE, Hauger RL. Prevalence and disease risks for male and female sex chromosome trisomies: a registry-based phenome-wide association study in 1.5 million participants of MVP, FinnGen, and UK Biobank. medRxiv. 2025 Feb 02. PMID: 39974076.
      View in: PubMed
    4. Hall A, Furniss A, Tartaglia NN, Janusz J, Wilson R, Middleton C, Martin S, Frazier J, Martinez-Chadrom M, Hansen-Moore J, Ikomi C, Ross J, Vogiaski MG, Morrow L, Christakis DA, Lean RE, Nokoff N, Pyle L, Davis SM. Neurodevelopmental and Mental Health Outcomes in a National Clinical Sample of Youth With Sex Chromosome Trisomies Compared With Matched Controls. J Dev Behav Pediatr. 2025 Mar-Apr 01; 46(2):e208-e215. PMID: 40232995.
      View in: PubMed
    5. Hall A, Furniss A, Tartaglia NN, Janusz J, Wilson R, Middleton C, Martin S, Frazier J, Martinez-Chadrom M, Hansen-Moore J, Ikomi C, Ross J, Vogiaski MG, Morrow L, Christakis DA, Lean RE, Nokoff N, Pyle L, Davis SM. Neurodevelopmental and Mental Health Outcomes in a National Clinical Sample of Youth With Sex Chromosome Trisomies Compared With Matched Controls. J Dev Behav Pediatr. 2025 Jan 09. PMID: 39823358.
      View in: PubMed
    6. Nunes-Moreno M, Furniss A, Cortez S, Davis SM, Dowshen N, Kazak AE, Nahata L, Pyle L, Reirden DH, Schwartz B, Sequeira GM, Nokoff NJ. Mental Health Diagnoses and Suicidality Among Transgender Youth in Hospital Settings. LGBT Health. 2025 Jan; 12(1):20-28. PMID: 39016468.
      View in: PubMed
    7. Klamut N, Bothwell S, Carl AE, Bamba V, Law JR, Brickman WJ, Klein KO, Kanakatti Shankar R, Pinnaro CT, Fechner PY, Prakash SK, Gutmark-Little I, Howell S, Tartaglia N, Good M, Ranallo KC, Davis SM. Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry. Am J Med Genet A. 2024 Dec; 194(12):e63819. PMID: 39016627.
      View in: PubMed
    8. Howell S, Davis SM, Carstens B, Haag M, Ross JL, Tartaglia NR. Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling. Int J Neonatal Screen. 2024 Jul 10; 10(3). PMID: 39051404.
      View in: PubMed
    9. Gravholt CH, Andersen NH, Christin-Maitre S, Davis SM, Duijnhouwer A, Gawlik A, Maciel-Guerra AT, Gutmark-Little I, Fleischer K, Hong D, Klein KO, Prakash SK, Shankar RK, Sandberg DE, Sas TCJ, Skakkeb?k A, Stochholm K, van der Velden JA, Backeljauw PF. Clinical practice guidelines for the care of girls and women with Turner syndrome. Eur J Endocrinol. 2024 Jun 05; 190(6):G53-G151. PMID: 38748847.
      View in: PubMed
    10. Davis SM, Teerlink CC, Lynch JA, Klamut N, Gorman BR, Pagadala MS, Panizzon MS, Merritt VC, Genovese G, Ross JL, Hauger RL. An extra X chromosome among adult women in the Million Veteran Program: A more benign perspective of trisomy X. Am J Med Genet C Semin Med Genet. 2024 Mar 05; e32083. PMID: 38441278.
      View in: PubMed
    11. Davis SM, Teerlink C, Lynch JA, Gorman BR, Pagadala M, Liu A, Panizzon MS, Merritt VC, Genovese G, Ross JL, Hauger RL. Prevalence, Morbidity, and Mortality of Men With Sex Chromosome Aneuploidy in the Million Veteran Program Cohort. JAMA Netw Open. 2024 03 04; 7(3):e244113. PMID: 38551561.
      View in: PubMed
    12. San Roman AK, Skaletsky H, Godfrey AK, Bokil NV, Teitz L, Singh I, Blanton LV, Bellott DW, Pyntikova T, Lange J, Koutseva N, Hughes JF, Brown L, Phou S, Buscetta A, Kruszka P, Banks N, Dutra A, Pak E, Lasutschinkow PC, Keen C, Davis SM, Lin AE, Tartaglia NR, Samango-Sprouse C, Muenke M, Page DC. The human Y and inactive X chromosomes similarly modulate autosomal gene expression. Cell Genom. 2024 Jan 10; 4(1):100462. PMID: 38190107.
      View in: PubMed
    13. Huang SD, Bamba V, Bothwell S, Fechner PY, Furniss A, Ikomi C, Nahata L, Nokoff NJ, Pyle L, Seyoum H, Davis SM. Development and validation of a computable phenotype for Turner syndrome utilizing electronic health records from a national pediatric network. Am J Med Genet A. 2024 04; 194(4):e63495. PMID: 38066696.
      View in: PubMed
    14. Pham TT, Davis SM, Tong S, Campa KA, Friedman NR, Gitomer SA. High Prevalence of Obstructive Sleep-Disordered Breathing in Pediatric Patients With Turner Syndrome. Otolaryngol Head Neck Surg. 2024 Mar; 170(3):905-912. PMID: 37937707.
      View in: PubMed
    15. Kanakatti Shankar R, Carl A, Law JR, Bamba V, Brickman WJ, Prakash SK, Dowlut McElroy T, Howell S, Gutmark Little I, Klein KO, Pinnaro CT, Ranallo K, Good M, Davis SM. Inspiring New Science to Guide Healthcare in Turner Syndrome: Rationale, design, and methods for the InsighTS Registry. Am J Med Genet A. 2024 02; 194(2):311-319. PMID: 37827984.
      View in: PubMed
    16. Stochholm K, Holmg?rd C, Davis SM, Gravholt CH, Berglund A. Incidence, prevalence, age at diagnosis, and mortality in individuals with 45,X/46,XY mosaicism: A population-based registry study. Genet Med. 2024 01; 26(1):100987. PMID: 37781900.
      View in: PubMed
    17. Huang SD, Bamba V, Bothwell S, Fechner PY, Furniss A, Ikomi C, Nahata L, Nokoff NJ, Pyle L, Seyoum H, Davis SM. Development and Validation of a Computable Phenotype for Turner Syndrome Utilizing Electronic Health Records from a National Pediatric Network. medRxiv. 2023 Jul 23. PMID: 37502850.
      View in: PubMed
    18. Davis SM, Teerlink C, Lynch JA, Gorman BR, Pagadala M, Liu A, Panizzon MS, Merritt VC, Genovese G, Pyarajan S, Ross JL, Hauger RL. Prevalence, Morbidity, and Mortality of 1,609 Men with Sex Chromosome Aneuploidy: Results from the Diverse Million Veteran Program Cohort. medRxiv. 2023 Jul 16. PMID: 37502926.
      View in: PubMed
    19. San Roman AK, Skaletsky H, Godfrey AK, Bokil NV, Teitz L, Singh I, Blanton LV, Bellott DW, Pyntikova T, Lange J, Koutseva N, Hughes JF, Brown L, Phou S, Buscetta A, Kruszka P, Banks N, Dutra A, Pak E, Lasutschinkow PC, Keen C, Davis SM, Lin AE, Tartaglia NR, Samango-Sprouse C, Muenke M, Page DC. The human Y and inactive X chromosomes similarly modulate autosomal gene expression. bioRxiv. 2023 Jun 07. PMID: 37333288.
      View in: PubMed
    20. Miller VA, Miller C, Davis SM, Nokoff NJ, Buchanan C, Friedrich EA, Carl A, Strine S, Vogiatzi MG. Information needs and health status in adolescents and young adults with differences of sex development or sex chromosome aneuploidies. J Pediatr Urol. 2023 10; 19(5):586-595. PMID: 37308330.
      View in: PubMed
    21. Davis SM, Urban R, D'Alessandro A, Reisz JA, Chan CL, Kelsey M, Howell S, Tartaglia N, Zeitler P, Baker Ii P. Unique plasma metabolite signature for adolescents with Klinefelter syndrome reveals altered fatty acid metabolism. Endocr Connect. 2023 May 01; 12(5). PMID: 36884262.
      View in: PubMed
    22. San Roman AK, Godfrey AK, Skaletsky H, Bellott DW, Groff AF, Harris HL, Blanton LV, Hughes JF, Brown L, Phou S, Buscetta A, Kruszka P, Banks N, Dutra A, Pak E, Lasutschinkow PC, Keen C, Davis SM, Tartaglia NR, Samango-Sprouse C, Muenke M, Page DC. The human inactive X chromosome modulates expression of the active X chromosome. Cell Genom. 2023 Feb 08; 3(2):100259. PMID: 36819663.
      View in: PubMed
    23. Kremen J, Davis SM, Nahata L, Kapa HM, Dattilo TM, Liu E, Hutaff-Lee C, Tishelman AC, Crerand CE. Neuropsychological and mental health concerns in a multicenter clinical sample of youth with turner syndrome. Am J Med Genet A. 2023 04; 191(4):962-976. PMID: 36608170.
      View in: PubMed
    24. Howell S, Davis SM, Thompson T, Brown M, Tanda T, Kowal K, Alston A, Ross J, Tartaglia NR. Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance. J Genet Couns. 2023 02; 32(1):250-259. PMID: 36204975.
      View in: PubMed
    25. Davis SM, Nokoff NJ, Furniss A, Pyle L, Valentine A, Fechner P, Ikomi C, Magnusen B, Nahata L, Vogiatzi MG, Dempsey A. Population-based Assessment of Cardiometabolic-related Diagnoses in Youth With Klinefelter Syndrome: A PEDSnet Study. J Clin Endocrinol Metab. 2022 04 19; 107(5):e1850-e1859. PMID: 35106546.
      View in: PubMed
    26. Auchus RJ, Sarafoglou K, Fechner PY, Vogiatzi MG, Imel EA, Davis SM, Giri N, Sturgeon J, Roberts E, Chan JL, Farber RH. Crinecerfont Lowers Elevated Hormone Markers in Adults With 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. 2022 02 17; 107(3):801-812. PMID: 34653252.
      View in: PubMed
    27. Howell S, Buchanan C, Davis SM, Miyazawa H, Furuta GT, Tartaglia NR, Nguyen N. Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications. Mol Genet Genomic Med. 2021 12; 9(12):e1833. PMID: 34738344.
      View in: PubMed
    28. Cung S, Pyle L, Nadeau K, Dabelea D, Cree-Green M, Davis SM. In-vivo skeletal muscle mitochondrial function in Klinefelter syndrome. J Investig Med. 2022 01; 70(1):104-107. PMID: 34493629.
      View in: PubMed
    29. Guzewicz L, Howell S, Crerand CE, Umbaugh H, Nokoff NJ, Barker J, Davis SM. Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype. Am J Med Genet A. 2021 05; 185(5):1437-1447. PMID: 33616298.
      View in: PubMed
    30. Vogiatzi MG, Davis SM, Ross JL. Cortical Bone Mass is Low in Boys with Klinefelter Syndrome and Improves with Oxandrolone. J Endocr Soc. 2021 Apr 01; 5(4):bvab016. PMID: 33733020.
      View in: PubMed
    31. Cree-Green M, Carreau AM, Davis SM, Frohnert BI, Kaar JL, Ma NS, Nokoff NJ, Reusch JEB, Simon SL, Nadeau KJ. Peer mentoring for professional and personal growth in academic medicine. J Investig Med. 2020 08; 68(6):1128-1134. PMID: 32641352.
      View in: PubMed
    32. Davis SM, Soares K, Howell S, Cree-Green M, Buyers E, Johnson J, Tartaglia NR. Diminished Ovarian Reserve in Girls and Adolescents with Trisomy X Syndrome. Reprod Sci. 2020 11; 27(11):1985-1991. PMID: 32578162.
      View in: PubMed
    33. Davis SM, DeKlotz S, Nadeau KJ, Kelsey MM, Zeitler PS, Tartaglia NR. High prevalence of cardiometabolic risk features in adolescents with 47,XXY/Klinefelter syndrome. Am J Med Genet C Semin Med Genet. 2020 06; 184(2):327-333. PMID: 32542985.
      View in: PubMed
    34. Davis SM, Bloy L, Roberts TPL, Kowal K, Alston A, Tahsin A, Truxon A, Ross JL. Testicular function in boys with 47,XYY and relationship to phenotype. Am J Med Genet C Semin Med Genet. 2020 06; 184(2):371-385. PMID: 32544298.
      View in: PubMed
    35. Chang S, Skakkebaek A, Davis SM, Gravholt CH. Morbidity in Klinefelter syndrome and the effect of testosterone treatment. Am J Med Genet C Semin Med Genet. 2020 06; 184(2):344-355. PMID: 32496001.
      View in: PubMed
    36. Hallgr?msson B, Aponte JD, Katz DC, Bannister JJ, Riccardi SL, Mahasuwan N, McInnes BL, Ferrara TM, Lipman DM, Neves AB, Spitzmacher JAJ, Larson JR, Bellus GA, Pham AM, Aboujaoude E, Benke TA, Chatfield KC, Davis SM, Elias ER, Enzenauer RW, French BM, Pickler LL, Shieh JTC, Slavotinek A, Harrop AR, Innes AM, McCandless SE, McCourt EA, Meeks NJL, Tartaglia NR, Tsai AC, Wyse JPH, Bernstein JA, Sanchez-Lara PA, Forkert ND, Bernier FP, Spritz RA, Klein OD. Automated syndrome diagnosis by three-dimensional facial imaging. Genet Med. 2020 10; 22(10):1682-1693. PMID: 32475986.
      View in: PubMed
    37. Aksglaede L, Davis SM, Ross JL, Juul A. Minipuberty in Klinefelter syndrome: Current status and future directions. Am J Med Genet C Semin Med Genet. 2020 06; 184(2):320-326. PMID: 32476267.
      View in: PubMed
    38. Davis SM, Kaar JL, Ringham BM, Hockett CW, Glueck DH, Dabelea D. Sex differences in infant body composition emerge in the first 5 months of life. J Pediatr Endocrinol Metab. 2019 Nov 26; 32(11):1235-1239. PMID: 31483758.
      View in: PubMed
    39. Davis SM, Reynolds RM, Dabelea DM, Zeitler PS, Tartaglia NR. Testosterone Treatment in Infants With 47,XXY: Effects on Body Composition. J Endocr Soc. 2019 Dec 01; 3(12):2276-2285. PMID: 31737857.
      View in: PubMed
    40. Davis SM, Geffner ME. Cardiometabolic health in Turner syndrome. Am J Med Genet C Semin Med Genet. 2019 03; 181(1):52-58. PMID: 30775849.
      View in: PubMed
    41. Prakash SK, Lugo-Ruiz S, Rivera-D?vila M, Rubio N, Shah AN, Knickmeyer RC, Scurlock C, Crenshaw M, Davis SM, Lorigan GA, Dorfman AT, Rubin K, Maslen C, Bamba V, Kruszka P, Silberbach M. The Turner syndrome research registry: Creating equipoise between investigators and participants. Am J Med Genet C Semin Med Genet. 2019 03; 181(1):135-140. PMID: 30758128.
      View in: PubMed
    42. Hsu SC, Bartz S, Pyle L, Fete M, Davis S, Ohman-Hanson R, Fete TJ, Motil KJ. Growth failure in focal dermal hypoplasia. Am J Med Genet A. 2019 04; 179(4):628-633. PMID: 30693654.
      View in: PubMed
    43. Martin S, Cordeiro L, Richardson P, Davis S, Tartaglia N. The Association of Motor Skills and Adaptive Functioning in XXY/Klinefelter and XXYY Syndromes. Phys Occup Ther Pediatr. 2019; 39(4):446-459. PMID: 30592247.
      View in: PubMed
    44. Davis SM, Lahlou N, Cox-Martin M, Kowal K, Zeitler PS, Ross JL. Oxandrolone Treatment Results in an Increased Risk of Gonadarche in Prepubertal Boys With Klinefelter Syndrome. J Clin Endocrinol Metab. 2018 09 01; 103(9):3449-3455. PMID: 29931143.
      View in: PubMed
    45. Tartaglia NR, Wilson R, Miller JS, Rafalko J, Cordeiro L, Davis S, Hessl D, Ross J. Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter Syndrome, XYY, and XXYY. J Dev Behav Pediatr. 2017 Apr; 38(3):197-207. PMID: 28333849.
      View in: PubMed
    46. Ross JL, Kushner H, Kowal K, Bardsley M, Davis S, Reiss AL, Tartaglia N, Roeltgen D. Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome. J Pediatr. 2017 06; 185:193-199.e4. PMID: 28285751.
      View in: PubMed
    47. Davis SM, Cox-Martin MG, Bardsley MZ, Kowal K, Zeitler PS, Ross JL. Effects of Oxandrolone on Cardiometabolic Health in Boys With Klinefelter Syndrome: A Randomized Controlled Trial. J Clin Endocrinol Metab. 2017 01 01; 102(1):176-184. PMID: 27802097.
      View in: PubMed
    48. Davis S, Howell S, Wilson R, Tanda T, Ross J, Zeitler P, Tartaglia N. Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome. Adv Pediatr. 2016 08; 63(1):15-46. PMID: 27426894.
      View in: PubMed
    49. Poppy A, Retamal-Munoz C, Cree-Green M, Wood C, Davis S, Clements SA, Majidi S, Steck AK, Alonso GT, Chambers C, Rewers A. Reduction of Insulin Related Preventable Severe Hypoglycemic Events in Hospitalized Children. Pediatrics. 2016 07; 138(1). PMID: 27317577.
      View in: PubMed
    50. Davis SM, Rogol AD, Ross JL. Testis Development and Fertility Potential in Boys with Klinefelter Syndrome. Endocrinol Metab Clin North Am. 2015 Dec; 44(4):843-65. PMID: 26568497.
      View in: PubMed
    51. Davis SM, Maddux AB, Alonso GT, Okada CR, Mourani PM, Maahs DM. Profound hypokalemia associated with severe diabetic ketoacidosis. Pediatr Diabetes. 2016 Feb; 17(1):61-5. PMID: 25430801.
      View in: PubMed
    52. Davis SM, Katusic SK, Barbaresi WJ, Killian J, Weaver AL, Ottman R, Wirrell EC. Epilepsy in children with attention-deficit/hyperactivity disorder. Pediatr Neurol. 2010 May; 42(5):325-30. PMID: 20399385.
      View in: PubMed
    53. Tartaglia N, Davis S, Hench A, Nimishakavi S, Beauregard R, Reynolds A, Fenton L, Albrecht L, Ross J, Visootsak J, Hansen R, Hagerman R. A new look at XXYY syndrome: medical and psychological features. Am J Med Genet A. 2008 Jun 15; 146A(12):1509-22. PMID: 18481271.
      View in: PubMed
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