Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers–Danlos Syndrome: A Report of a Saudi Founder Mutation

Ehlers–Danlos syndrome (EDS) is a group of clinically and genetically heterogeneous disorder of soft connective tissues. The hallmark clinical features of the EDS are hyperextensible skin, hypermobile joints, and fragile vessels. It exhibits associated symptoms including contractures of muscles, kyp...

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Detalles Bibliográficos
Autores principales: Almatrafi, Ahmad, Hashmi, Jamil A., Fadhli, Fatima, Alharbi, Asma, Afzal, Sibtain, Ramzan, Khushnooda, Basit, Sulman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Georg Thieme Verlag KG 2020
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7938939/
https://www.ncbi.nlm.nih.gov/pubmed/33693443
http://dx.doi.org/10.1055/s-0041-1722873

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7938939/
https://www.ncbi.nlm.nih.gov/pubmed/33693443
http://dx.doi.org/10.1055/s-0041-1722873

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