Case report: Two individuals with <i>AEBP1</i>-related classical-like EDS: Further clinical characterisation and description of novel <i>AEBP1</i> variants.

Angwin, Chloe; Ghali, Neeti; van Dijk, Fleur Stephanie

Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants.

Angwin, Chloe; Ghali, Neeti; van Dijk, Fleur Stephanie.

Affiliation

Angwin C; National Ehlers-Danlos Syndrome Service, London North West University Healthcare NHS Trust, London, United Kingdom.
Ghali N; Genetics and Genomics Division, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, United Kingdom.
van Dijk FS; National Ehlers-Danlos Syndrome Service, London North West University Healthcare NHS Trust, London, United Kingdom.

Front Genet ; 14: 1148224, 2023.

Article de En | MEDLINE | ID: mdl-37144134

Mots clés

AEBP1; EhlersDanlos syndrome; classical-like EDS type 2; connective tissue disease; hair loss

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Type d'étude: Guideline / Prognostic_studies / Qualitative_research Langue: En Journal: Front Genet Année: 2023 Type de document: Article Pays d'affiliation: Royaume-Uni Pays de publication: Suisse

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