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22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.
Falah, Nadia; Posey, Jennifer E; Thorson, Willa; Benke, Paul; Tekin, Mustafa; Tarshish, Brocha; Lupski, James R; Harel, Tamar.
Afiliação
  • Falah N; Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics Miller School of Medicine, University of Miami and Jackson Memorial Hospital, Miami, Florida.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Thorson W; Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics Miller School of Medicine, University of Miami and Jackson Memorial Hospital, Miami, Florida.
  • Benke P; Memorial HealthCare System, Hollywood, Florida.
  • Tekin M; Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics Miller School of Medicine, University of Miami and Jackson Memorial Hospital, Miami, Florida.
  • Tarshish B; Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics Miller School of Medicine, University of Miami and Jackson Memorial Hospital, Miami, Florida.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Harel T; Department of Pediatrics, Baylor College of Medicine, Houston, Texas.
Am J Med Genet A ; 173(4): 1066-1070, 2017 Apr.
Article em En | MEDLINE | ID: mdl-28328136
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Waardenburg / Cromossomos Humanos Par 22 / Doenças Desmielinizantes / Doença de Pelizaeus-Merzbacher / Transtornos Testiculares 46, XX do Desenvolvimento Sexual / Doença de Hirschsprung / Falência Renal Crônica Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Waardenburg / Cromossomos Humanos Par 22 / Doenças Desmielinizantes / Doença de Pelizaeus-Merzbacher / Transtornos Testiculares 46, XX do Desenvolvimento Sexual / Doença de Hirschsprung / Falência Renal Crônica Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article