A case of Ehlers–Danlos syndrome presenting as short stature: a novel mutation in SLC39A13 causing spondylodysplastic Ehlers–Danlos syndrome

Ehlers–Danlos syndrome (EDS) is a heritable connective tissue disorder characterized by a varying degree of skin hyperextensibility and joint hypermobility. EDS is classified into 13 subtypes according to the most recent classification. These subtypes are clinically and genetically heterogenous. The...

Descripción completa

Detalles Bibliográficos
Autores principales: Agrawal, Poorvi, Kaur, Harpreet, Kondekar, Alpana, Rathi, Surbhi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9885422/
https://www.ncbi.nlm.nih.gov/pubmed/36727144
http://dx.doi.org/10.1093/omcr/omac107

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9885422/
https://www.ncbi.nlm.nih.gov/pubmed/36727144
http://dx.doi.org/10.1093/omcr/omac107

Ejemplares similares