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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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Pubblicato in:Hum Mol Genet
Autori principali: Yu, Qian, Lin, Bingying, Xie, Shangqian, Gao, Song, Li, Wei, Liu, Yizhi, Wang, Hongwei, Huang, Danping, Xie, Zhi
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2018
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Accesso online: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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