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...

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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

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