A recurrent, non-penetrant sequence variant, p.Arg266Cys in...

American Journal of Ophthalmology Case Reports 2017 / 09 Vol. 7

A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 ( GDF3 ) in a female with unilateral anophthalmia and skeletal anomalies

Bardakjian, Tanya, Krall, Max, Wu, Di, Lao, Richard, Tang, Paul Ling-Fung, Wan, Eunice, Kopinsky, Sarina, Schneider, Adele, Kwok, Pui-yan, Slavotinek, Anne
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Volume:
7
Language:
english
Journal:
American Journal of Ophthalmology Case Reports
DOI:
10.1016/j.ajoc.2017.06.006
Date:
September, 2017
File:
PDF, 458 KB
english, 2017
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