A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos
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DOI: 10.1093/hmg/ddy144
Abstract: 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… read more here.
Keywords: frem2 causes; homozygous mutation; arg2167trp; arg2167trp frem2 ... See more keywords