Exome sequencing identifies de novo pathogenic variants in <i>FBN1</i> and <i>TRPS1</i> in a patient with a complex connective tissue phenotype.

Zastrow, Diane B; Zornio, Patricia A; Dries, Annika; Kohler, Jennefer; Fernandez, Liliana; Waggott, Daryl; Walkiewicz, Magdalena; Eng, Christine M; Manning, Melanie A; Farrelly, Ellyn; Fisher, Paul G; Ashley, Euan A; Bernstein, Jonathan A; Wheeler, Matthew T

Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.

Zastrow, Diane B; Zornio, Patricia A; Dries, Annika; Kohler, Jennefer; Fernandez, Liliana; Waggott, Daryl; Walkiewicz, Magdalena; Eng, Christine M; Manning, Melanie A; Farrelly, Ellyn; Fisher, Paul G; Ashley, Euan A; Bernstein, Jonathan A; Wheeler, Matthew T.

Afiliação

Zastrow DB; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.
Zornio PA; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.
Dries A; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.
Kohler J; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.
Fernandez L; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.
Waggott D; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.
Walkiewicz M; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.
Eng CM; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.
Manning MA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California 94305, USA.
Farrelly E; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.
Fisher PG; Division of Cardiovascular Medicine, Stanford University, Stanford, California 94305, USA.
Ashley EA; Baylor Miraca Genetics Laboratories, Houston, Texas 77021-2024, USA.
Bernstein JA; Baylor Miraca Genetics Laboratories, Houston, Texas 77021-2024, USA.
Wheeler MT; Department of Pathology, Stanford School of Medicine, Stanford, California 94305, USA.

Cold Spring Harb Mol Case Stud ; 3(1): a001388, 2017 Jan.

Article em En | MEDLINE | ID: mdl-28050602

Palavras-chave

central hypotonia; congenital diaphragmatic hernia; fourth toe clinodactyly; hammertoe; inguinal hernia; joint laxity; long philtrum; malar flattening; pes planus; protruding ear; smooth philtrum; sparse anterior scalp hair; sparse lateral eyebrow; superior pectus carinatum; thin nail; thin upper lip vermilion; thoracic scoliosis; umbilical hernia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Cold Spring Harb Mol Case Stud Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos

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