Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3.

Infante, Elena; Alkorta-Aranburu, Gorka; El-Gharbawy, Areeg

Infante, Elena; Alkorta-Aranburu, Gorka; El-Gharbawy, Areeg.

Afiliação

Infante E; Department of Pediatrics Division of Medical Genetics Children's Hospital of Pittsburgh of UPMC Pittsburgh Pennsylvania.
Alkorta-Aranburu G; Department of Human Genetics The University of Chicago Chicago Illinois.
El-Gharbawy A; Department of Pediatrics Division of Medical Genetics Children's Hospital of Pittsburgh of UPMC Pittsburgh Pennsylvania.

Clin Case Rep ; 5(8): 1277-1283, 2017 08.

Article em En | MEDLINE | ID: mdl-28781842

Palavras-chave

CdLS; Cornelia de Lange; SMC3; dominant inheritance; duplication; familial; mild phenotype

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Clin Case Rep Ano de publicação: 2017 Tipo de documento: Article País de publicação: Reino Unido

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