A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice.

Fantauzzo KA, Tadin-Strapps M, You Y, Mentzer SE, Baumeister FA, Cianfarani S, Van Maldergem L, Warburton D, Sundberg JP, Christiano AM. A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice. Hum Mol Genet. 2008 Nov 15; 17(22):3539-51.

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subject areas

Abnormalities, Multiple
Animals
Binding Sites
Chromosome Breakage
Chromosome Inversion
Chromosomes, Human, Pair 8
Disease Models, Animal
DNA-Binding Proteins
Fluorescent Antibody Technique
GATA Transcription Factors
Gene Rearrangement
Hair Follicle
Humans
Hypertrichosis
In Situ Hybridization, Fluorescence
Mice
Molecular Sequence Data
Phenotype
Polymerase Chain Reaction
Repressor Proteins
Sp1 Transcription Factor
Transcription Factors
Zinc Fingers

authors with profiles

Katherine Ann Fantauzzo