Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome.

Dangiolo, Silvana Beatriz; Wilson, Ashley; Jobanputra, Vaidehi; Anyane-Yeboa, Kwame.
Am J Med Genet A; 167A(12): 3161-6, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26364555