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A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
Mendelsohn, Bryce A; Beleford, Daniah T; Abu-El-Haija, Aya; Alsaleh, Norah S; Rahbeeni, Zuhair; Martin, Pierre-Marie; Rego, Shannon; Huang, Alyssa; Capodanno, Gina; Shieh, Joseph T; Van Ziffle, Jessica; Risch, Neil; Alkuraya, Fowzan S; Slavotinek, Anne M.
Afiliação
  • Mendelsohn BA; Division of Medical Genetics, University of California, San Francisco, San Francisco, California.
  • Beleford DT; Division of Medical Genetics, University of California, San Francisco, San Francisco, California.
  • Abu-El-Haija A; Department of Medical Oncology, Dana Farber Cancer Institute, Boston, Massachusetts.
  • Alsaleh NS; Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.
  • Rahbeeni Z; Division of Genetics and Metabolic Medicine, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • Martin PM; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Rego S; Institute for Human Genetics, University of California, San Francisco, San Francisco, California.
  • Huang A; Division of Medical Genetics, University of California, San Francisco, San Francisco, California.
  • Capodanno G; Division of Pediatric Endocrinology, University of California, San Francisco, California.
  • Shieh JT; Division of Pediatric Endocrinology, University of California, San Francisco, California.
  • Van Ziffle J; Division of Medical Genetics, University of California, San Francisco, San Francisco, California.
  • Risch N; Institute for Human Genetics, University of California, San Francisco, San Francisco, California.
  • Alkuraya FS; Institute for Human Genetics, University of California, San Francisco, San Francisco, California.
  • Slavotinek AM; Institute for Human Genetics, University of California, San Francisco, San Francisco, California.
Am J Med Genet A ; 182(3): 513-520, 2020 03.
Article em En | MEDLINE | ID: mdl-31880405
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Doenças Genéticas Ligadas ao Cromossomo X / Proteínas de Ligação a DNA / Síndromes de Tricotiodistrofia Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Doenças Genéticas Ligadas ao Cromossomo X / Proteínas de Ligação a DNA / Síndromes de Tricotiodistrofia Idioma: En Ano de publicação: 2020 Tipo de documento: Article