Case report: Characterization of a rare pathogenic variant associated with loss of COL3A1 expression in vascular Ehlers Danlos syndrome.

Manhas, Janvie; Lohani, Lov Raj; Seethy, Ashikh; Kumar, Uma; Gamanagatti, Shivanand; Sen, Sudip

Manhas, Janvie; Lohani, Lov Raj; Seethy, Ashikh; Kumar, Uma; Gamanagatti, Shivanand; Sen, Sudip.

Afiliación

Manhas J; Department of Biochemistry, All India Institute of Medical Sciences, New Delhi, India.
Lohani LR; Department of Rheumatology, All India Institute of Medical Sciences, New Delhi, India.
Seethy A; Department of Biochemistry, All India Institute of Medical Sciences, New Delhi, India.
Kumar U; Department of Rheumatology, All India Institute of Medical Sciences, New Delhi, India.
Gamanagatti S; Department of Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, India.
Sen S; Department of Biochemistry, All India Institute of Medical Sciences, New Delhi, India.

Front Cardiovasc Med ; 9: 939013, 2022.

Article en En | MEDLINE | ID: mdl-36304539

Palabras clave

COL3A1 pathogenic variant; clinical fibroblast testing; exome sequencing; hepatic artery dissection; stroke; vascular Ehlers Danlos syndrome

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Front Cardiovasc Med Año: 2022 Tipo del documento: Article País de afiliación: India Pais de publicación: Suiza

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google