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A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness.
Guen, Vincent J; Edvardson, Simon; Fraenkel, Nitay D; Fattal-Valevski, Aviva; Jalas, Chaim; Anteby, Irene; Shaag, Avraham; Dor, Talia; Gillis, David; Kerem, Eitan; Lees, Jacqueline A; Colas, Pierre; Elpeleg, Orly.
Afiliação
  • Guen VJ; David H. Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, Massachusetts.
  • Edvardson S; Monique and Jacques Roboh Department of Genetic Research, Hadassah Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Fraenkel ND; Pediatric Neurology Unit, Hadassah Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Fattal-Valevski A; Department of Respiratory Rehabilitation, Alyn Hospital, Jerusalem, Israel.
  • Jalas C; Pediatric Neurology Unit, Dana-Dwek Children's Hospital, Tel Aviv Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Anteby I; Bonei Olam, Center for Rare Jewish Genetic Disorders, Brooklyn, New York.
  • Shaag A; Department of Ophthalmology, Hadassah Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Dor T; Monique and Jacques Roboh Department of Genetic Research, Hadassah Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Gillis D; Pediatric Neurology Unit, Hadassah Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Kerem E; Department of Pediatrics, Hadassah Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Lees JA; Department of Pediatrics, Hadassah Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Colas P; David H. Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, Massachusetts.
  • Elpeleg O; P2I2 Group, Protein Phosphorylation and Human Disease Laboratory, Station Biologique de Roscoff, Centre National de la Recherche Scientifique and Université Pierre et Marie Curie, Roscoff, France.
Am J Med Genet A ; 176(1): 92-98, 2018 01.
Article em En | MEDLINE | ID: mdl-29130579
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Displasia Retiniana / Quinases Ciclina-Dependentes / Surdez / Estudos de Associação Genética / Agenesia do Corpo Caloso / Homozigoto / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Displasia Retiniana / Quinases Ciclina-Dependentes / Surdez / Estudos de Associação Genética / Agenesia do Corpo Caloso / Homozigoto / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article