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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.
  • 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 en En | MEDLINE | ID: mdl-29260090
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Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Año: 2017 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Año: 2017 Tipo del documento: Article