De novo SETD5 loss-of-function variant as a cause for intellectual disability in a 10-year old boy with an aberrant blind ending bronchus.

Green, Claire; Willoughby, Joshua; Balasubramanian, Meena.
Am J Med Genet A; 173(12): 3165-3171, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28905509