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Novel variants in CDH2 are associated with a new syndrome including Peters anomaly.
Reis, Linda M; Houssin, Nathalie S; Zamora, Carlos; Abdul-Rahman, Omar; Kalish, Jennifer M; Zackai, Elaine H; Plageman, Timothy F; Semina, Elena V.
Afiliação
  • Reis LM; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.
  • Houssin NS; College of Optometry, The Ohio State University, Columbus, Ohio.
  • Zamora C; Department of Radiology, Division of Neuroradiology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
  • Abdul-Rahman O; Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska.
  • Kalish JM; Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine, Philadelphia, Pennsylvania.
  • Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine, Philadelphia, Pennsylvania.
  • Plageman TF; College of Optometry, The Ohio State University, Columbus, Ohio.
  • Semina EV; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.
Clin Genet ; 97(3): 502-508, 2020 03.
Article em En | MEDLINE | ID: mdl-31650526

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Antígenos CD / Caderinas / Anormalidades do Olho / Opacidade da Córnea / Segmento Anterior do Olho Tipo de estudo: Risk_factors_studies Limite: Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Clin Genet Ano de publicação: 2020 Tipo de documento: Article País de publicação: Dinamarca

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Antígenos CD / Caderinas / Anormalidades do Olho / Opacidade da Córnea / Segmento Anterior do Olho Tipo de estudo: Risk_factors_studies Limite: Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Clin Genet Ano de publicação: 2020 Tipo de documento: Article País de publicação: Dinamarca