A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (<i>GDF3</i>) 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

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.

Afiliação

Bardakjian T; Division of Medical Genetics, Einstein Medical Center, Philadelphia, PA, USA.
Krall M; Dept. of Pediatrics, Division of Genetics, University of California San Francisco, San Francisco, CA, USA.
Wu D; Dept. of Pediatrics, Division of Genetics, University of California San Francisco, San Francisco, CA, USA.
Lao R; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.
Tang PL; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.
Wan E; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.
Kopinsky S; Division of Medical Genetics, Einstein Medical Center, Philadelphia, PA, USA.
Schneider A; Division of Medical Genetics, Einstein Medical Center, Philadelphia, PA, USA.
Kwok PY; Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.
Slavotinek A; Dept. of Pediatrics, Division of Genetics, University of California San Francisco, San Francisco, CA, USA.

Am J Ophthalmol Case Rep ; 7: 102-106, 2017 Sep.

Article em En | MEDLINE | ID: mdl-29260090

Palavras-chave

Anophthalmia; GDF3; Growth/Differentiation Factor 3; Microphthalmia; p.Arg266Cys in GDF3

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Am J Ophthalmol Case Rep Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos

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