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Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome.
Vivero, M; Cho, M T; Begtrup, A; Wentzensen, I M; Walsh, L; Payne, K; Zarate, Y A; Bosanko, K; Schaefer, G B; DeBrosse, S; Pollack, L; Mason, K; Retterer, K; DeWard, S; Juusola, J; Chung, W K.
Afiliação
  • Vivero M; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
  • Cho MT; GeneDx, Gaithersburg, MD, USA.
  • Begtrup A; GeneDx, Gaithersburg, MD, USA.
  • Wentzensen IM; GeneDx, Gaithersburg, MD, USA.
  • Walsh L; Department of Child Neurology, Riley Hospital for Children, Indianapolis, IN, USA.
  • Payne K; Department of Child Neurology, Riley Hospital for Children, Indianapolis, IN, USA.
  • Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA.
  • Bosanko K; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA.
  • Schaefer GB; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA.
  • DeBrosse S; Center for Human Genetics, University Hospitals Case Medical Center and Case Western Reserve University, Cleveland, OH, USA.
  • Pollack L; Division of Genetics, Arnold Palmer Hospital for Children, Orlando, FL, USA.
  • Mason K; Division of Genetics, Arnold Palmer Hospital for Children, Orlando, FL, USA.
  • Retterer K; GeneDx, Gaithersburg, MD, USA.
  • DeWard S; GeneDx, Gaithersburg, MD, USA.
  • Juusola J; GeneDx, Gaithersburg, MD, USA.
  • Chung WK; Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
Clin Genet ; 91(6): 929-931, 2017 06.
Article em En | MEDLINE | ID: mdl-28133733
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Congênitas / Canais de Sódio / Mutação de Sentido Incorreto Tipo de estudo: Risk_factors_studies Limite: Adolescent / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Clin Genet Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Congênitas / Canais de Sódio / Mutação de Sentido Incorreto Tipo de estudo: Risk_factors_studies Limite: Adolescent / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Clin Genet Ano de publicação: 2017 Tipo de documento: Article