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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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| Vydáno v: | Hum Mol Genet |
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| Hlavní autoři: | , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Oxford University Press
2018
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| Témata: | |
| On-line přístup: | 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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