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Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.
Cuddapah, Vishnu Anand; Dubbs, Holly A; Adang, Laura; Kugler, Steven L; McCormick, Elizabeth M; Zolkipli-Cunningham, Zarazuela; Ortiz-González, Xilma R; McCormack, Shana; Zackai, Elaine; Licht, Daniel J; Falk, Marni J; Marsh, Eric D.
Afiliação
  • Cuddapah VA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Adang L; Departments of Neurology and Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Kugler SL; The Epilepsy Neurogenetics Initiative, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • McCormick EM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Zolkipli-Cunningham Z; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Ortiz-González XR; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • McCormack S; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Zackai E; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Licht DJ; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Falk MJ; Departments of Neurology and Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Marsh ED; The Epilepsy Neurogenetics Initiative, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Am J Med Genet A ; 185(6): 1700-1711, 2021 06.
Article em En | MEDLINE | ID: mdl-33751773
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Fatores de Transcrição / Deficiências do Desenvolvimento / Craniossinostoses / Deficiência Intelectual Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Fatores de Transcrição / Deficiências do Desenvolvimento / Craniossinostoses / Deficiência Intelectual Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos