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Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype.
Rossetti, Linda Z; Bekheirnia, Mir Reza; Lewis, Andrea M; Mefford, Heather C; Golden-Grant, Katie; Tarczy-Hornoch, Kristina; Briere, Lauren C; Sweetser, David A; Walker, Melissa A; Kravets, Elijah; Stevenson, David A; Bruenner, Georgette; Sebastian, Jessica; Knapo, Julia; Rosenfeld, Jill A; Marcogliese, Paul C; Wangler, Michael F.
Afiliação
  • Rossetti LZ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Bekheirnia MR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • Golden-Grant K; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • Tarczy-Hornoch K; Department of Ophthalmology, University of Washington, Seattle, WA, USA.
  • Briere LC; Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
  • Sweetser DA; Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
  • Walker MA; Department of Neurology, Division of Neurogenetics, Child Neurology, Massachusetts General Hospital, Boston, MA, USA.
  • Kravets E; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA.
  • Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA.
  • Bruenner G; Division of Medical Genetics, Department of Pediatrics, Cohen Children's Medical Center, Queens, NY, USA.
  • Sebastian J; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
  • Knapo J; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Marcogliese PC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Mol Genet Genomic Med ; 9(1): e1542, 2021 01.
Article em En | MEDLINE | ID: mdl-33350591
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Beta Catenina / Vitreorretinopatias Exsudativas Familiares Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Beta Catenina / Vitreorretinopatias Exsudativas Familiares Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article