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Published in 2018 at "Human Molecular Genetics"
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…
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Keywords:
frem2 causes;
homozygous mutation;
arg2167trp;
arg2167trp frem2 ... See more keywords