A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies
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DOI: 10.1016/j.ajoc.2017.06.006
Abstract: Purpose The genetic causes of anophthalmia, microphthalmia and coloboma remain poorly understood. Missense mutations in Growth/Differentiation Factor 3 (GDF3) gene have previously been reported in patients with microphthalmia, iridial and retinal colobomas, Klippel-Feil anomaly with… read more here.
Keywords: factor gdf3; differentiation factor; female unilateral; unilateral anophthalmia ... See more keywords