A carregar...

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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Glob Med Genet
Main Authors: Almatrafi, Ahmad, Hashmi, Jamil A., Fadhli, Fatima, Alharbi, Asma, Afzal, Sibtain, Ramzan, Khushnooda, Basit, Sulman
Formato: Artigo
Idioma:Inglês
Publicado em: Georg Thieme Verlag KG 2020
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!