A GDF2 missense mutation potentially involved in the pathogenesis of hereditary hemorrhagic telangiectasia: a case report

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disease. ENG and ACVRL1 gene variants account for up to 96% of all cases, while the remaining cases are caused by SMAD4 or GDF2 variants, or by currently undiscovered mutations in coding or non-coding regions. Here, we rep...

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Detalles Bibliográficos
Autores principales: Ma, Le, Peng, Xi, Gong, Qiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10009034/
https://www.ncbi.nlm.nih.gov/pubmed/36891821
http://dx.doi.org/10.1177/03000605231159545

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