Article
A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS.
Journal of human genetics - 1 Mar 2012
Kondo Yukiko, Saitsu Hirotomo, Miyamoto Toshinobu, Nishiyama Kiyomi, Tsurusaki Yoshinori, Doi Hiroshi, Miyake Noriko, Ryoo Na-Kyung, Kim Jeong Hun, Yu Young Suk, Matsumoto Naomichi
Abstract excerpt
Oculofaciocardiodental syndrome (OFCD) is an X-linked dominant disorder associated with male lethality, presenting with congenital cataract, dysmorphic face, dental abnormalities and septal heart defects. Mutations in BCOR (encoding BCL-6-interacting corepressor) cause OFCD. Here, we report on a Korean family with common features of OFCD including bilateral 2nd-3rd toe syndactyly and septal heart defects in three...
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