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UnknownA recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies.
Not available
S-EPMC5722175 | biostudies-literature
UnknownNovel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.
Not available
S-EPMC10262898 | biostudies-literature
UnknownTwo missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.
Not available
S-EPMC6238016 | biostudies-literature
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