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Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.
Belnap, Newell; Price-Smith, Aiai; Ramsey, Keri; Leka, Kamawela; Abraham, Anna; Lieberman, Emma; Hassett, Katie; Potu, Sai; Rudy, Natasha; Smith, Kirstin; Mikhail, Fady M; Monaghan, Kirstin G; Hendershot, Andrea; Mourmans, Jeroen; Descartes, Maria; Huentelman, Matthew J; Sills, Jennifer; Rangasamy, Sampath; Narayanan, Vinodh.
Afiliação
  • Belnap N; Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
  • Price-Smith A; Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
  • Ramsey K; Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
  • Leka K; Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
  • Abraham A; Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
  • Lieberman E; Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
  • Hassett K; Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
  • Potu S; Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
  • Rudy N; Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
  • Smith K; Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
  • Mikhail FM; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Monaghan KG; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Hendershot A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Mourmans J; GeneDx, Gaithersburg, Maryland, USA.
  • Descartes M; GeneDx, Gaithersburg, Maryland, USA.
  • Huentelman MJ; Deventer Hospital, Deventer, The Netherlands.
  • Sills J; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Rangasamy S; Neurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
  • Narayanan V; Center for Rare Childhood Disorders (C4RCD), Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
Clin Genet ; 104(5): 607-609, 2023 Nov.
Article em En | MEDLINE | ID: mdl-37491870
ABSTRACT
Pedigree showing the autosomal dominant inheritance pattern of CSNK21 variants in families presenting with OCNDS. (A) Maternal inheritance to two daughters in Family 1, (B) Paternal inheritance to a daughter in Family 2, and (C) Maternal inheritance to two sons in Family 3.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Clin Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Clin Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos