Article
A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.
Human molecular genetics - 1 Jul 2018
Yu Qian, Lin Bingying, Xie Shangqian, Gao Song, Li Wei, Liu Yizhi, Wang Hongwei, Huang Danping, Xie Zhi
Abstract excerpt
Cryptophthalmos (CO, MIM: 123570) is rare congenital anomalies of eyelid formation, which can occur alone or in combination with multiple congenital anomalies as part of Fraser syndrome (FS) or Manitoba Oculotrichoanal syndrome. Causal mutations have been identified for these syndromes but not in the isolated cases. Here, we described two patients from two unrelated Chinese families: one with unilateral isolated...
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