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Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.
Rodan, Lance H; Anyane-Yeboa, Kwame; Chong, Karen; Klein Wassink-Ruiter, Jolien S; Wilson, Ashley; Smith, Lacey; Kothare, Sanjeev V; Rajabi, Farrah; Blaser, Susan; Ni, Min; DeBerardinis, Ralph J; Poduri, Annapurna; Berry, Gerard T.
Afiliação
  • Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Anyane-Yeboa K; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Chong K; Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, New York.
  • Klein Wassink-Ruiter JS; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
  • Wilson A; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
  • Smith L; Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, New York.
  • Kothare SV; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
  • Rajabi F; Department of Neurology, Northwell Health, Zucker School of Medicine at Hofstra/Northwell, New York.
  • Blaser S; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
  • Ni M; Division of Neuroradiology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • DeBerardinis RJ; Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, Texas.
  • Poduri A; Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, Texas.
  • Berry GT; Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, Texas.
Am J Med Genet A ; 176(12): 2554-2560, 2018 12.
Article em En | MEDLINE | ID: mdl-30475435
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transportadores de Ácidos Dicarboxílicos / Proteínas de Transporte da Membrana Mitocondrial / Alopecia / Transtornos Dismórficos Corporais / Megalencefalia / Transtornos do Neurodesenvolvimento / Mutação com Ganho de Função Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transportadores de Ácidos Dicarboxílicos / Proteínas de Transporte da Membrana Mitocondrial / Alopecia / Transtornos Dismórficos Corporais / Megalencefalia / Transtornos do Neurodesenvolvimento / Mutação com Ganho de Função Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article