A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos

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 th...

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Udgivet i:Hum Mol Genet
Main Authors: Yu, Qian, Lin, Bingying, Xie, Shangqian, Gao, Song, Li, Wei, Liu, Yizhi, Wang, Hongwei, Huang, Danping, Xie, Zhi
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2018
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6251612/
https://ncbi.nlm.nih.gov/pubmed/29688405
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy144
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