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De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.
Leduc, Magalie S; Mcguire, Marianne; Madan-Khetarpal, Suneeta; Ortiz, Damara; Hayflick, Susan; Keller, Kory; Eng, Christine M; Yang, Yaping; Bi, Weimin.
Afiliação
  • Leduc MS; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.
  • Mcguire M; Baylor Genetics Laboratories, Houston, TX, USA.
  • Madan-Khetarpal S; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.
  • Ortiz D; Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, PA, USA.
  • Hayflick S; Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, PA, USA.
  • Keller K; Department of Molecular and Medical Genetics, Oregon Health and Sciences University, Portland, OR, USA.
  • Eng CM; Department of Molecular and Medical Genetics, Oregon Health and Sciences University, Portland, OR, USA.
  • Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030-3411, USA.
  • Bi W; Baylor Genetics Laboratories, Houston, TX, USA.
Hum Genet ; 137(3): 257-264, 2018 Mar.
Article em En | MEDLINE | ID: mdl-29556724
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades do Olho / Domínios Proteicos Ricos em Prolina / Doenças da Íris / Proteínas de Membrana / Deficiência Intelectual Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades do Olho / Domínios Proteicos Ricos em Prolina / Doenças da Íris / Proteínas de Membrana / Deficiência Intelectual Idioma: En Ano de publicação: 2018 Tipo de documento: Article