A novel missense mutation outside the DNAJ domain of DNAJC21 is associated with Shwachman-Diamond syndrome.
Alsavaf MB, Verboon JM, Dogan ME, Azizoglu ZB, Okus FZ, Ozcan A, Dundar M, Eken A, Donmez-Altuntas H, Sankaran VG, Unal E. A novel missense mutation outside the DNAJ domain of DNAJC21 is associated with Shwachman-Diamond syndrome. Br J Haematol. 2022 06; 197(6):e88-e93.