Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta.

Ackermann, Amanda M; Levine, Michael A

Ackermann, Amanda M; Levine, Michael A.

Afiliação

Ackermann AM; Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania.
Levine MA; Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania.

Am J Med Genet A ; 173(7): 1907-1912, 2017 Jul.

Article em En | MEDLINE | ID: mdl-28436160

Palavras-chave

Ehlers-Danlos syndrome; biallelic mutations; collagen; osteogenesis imperfecta

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article

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