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Compound heterozygous splicing CDON variants result in isolated ocular coloboma.
Reis, Linda M; Basel, Donald; McCarrier, Julie; Weinberg, David V; Semina, Elena V.
Afiliação
  • Reis LM; Department of Pediatrics, Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, Wisconsin, USA.
  • Basel D; Department of Pediatrics, Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, Wisconsin, USA.
  • McCarrier J; Department of Pediatrics, Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, Wisconsin, USA.
  • Weinberg DV; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
  • Semina EV; Department of Pediatrics, Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, Wisconsin, USA.
Clin Genet ; 98(5): 486-492, 2020 11.
Article em En | MEDLINE | ID: mdl-32729136
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Moléculas de Adesão Celular / Coloboma / Holoprosencefalia / Proteínas Supressoras de Tumor Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Animals / Female / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2020 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: Moléculas de Adesão Celular / Coloboma / Holoprosencefalia / Proteínas Supressoras de Tumor Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Animals / Female / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2020 Tipo de documento: Article