A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies
Titel:
A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies
Auteur:
Bardakjian, Tanya Krall, Max Wu, Di Lao, Richard Tang, Paul Ling-Fung Wan, Eunice Kopinsky, Sarina Schneider, Adele Kwok, Pui-yan Slavotinek, Anne