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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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Dettagli Bibliografici
Pubblicato in:Glob Med Genet
Autori principali: Almatrafi, Ahmad, Hashmi, Jamil A., Fadhli, Fatima, Alharbi, Asma, Afzal, Sibtain, Ramzan, Khushnooda, Basit, Sulman
Natura: Artigo
Lingua:Inglês
Pubblicazione: Georg Thieme Verlag KG 2020
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7938939/
https://ncbi.nlm.nih.gov/pubmed/33693443
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0041-1722873
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