A Case of Spondylodysplastic Ehlers-Danlos Syndrome With Comorbid Hypophosphatasia

BACKGROUND/OBJECTIVE: Spondylodysplastic Ehlers-Danlos syndrome (spEDS) is a rare subtype of the heritable connective tissue disorder characterized in the 2017 Ehlers-Danlos syndrome (EDS) nosology. Three biallelic mutations, B4GALT7, B3GALT6, and SLC39A13, confirm the diagnosis of spEDS. Hypophosph...

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Detalles Bibliográficos
Autores principales: Dattagupta, Antara, Williamson, Shelley, El Nihum, Lamees I., Petak, Steven
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association of Clinical Endocrinology 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9701907/
https://www.ncbi.nlm.nih.gov/pubmed/36447830
http://dx.doi.org/10.1016/j.aace.2022.08.005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9701907/
https://www.ncbi.nlm.nih.gov/pubmed/36447830
http://dx.doi.org/10.1016/j.aace.2022.08.005

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