A Case of Spondylodysplastic Ehlers-Danlos Syndrome With Comorbid Hypophosphatasia

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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Bibliographic Details
Main Authors: Antara Dattagupta, BS, Shelley Williamson, MD, Lamees I. El Nihum, MD, MEng, Steven Petak, MD, JD
Format: Article
Language:English
Published: Elsevier 2022-11-01
Series:AACE Clinical Case Reports
Subjects:
Ehlers-Danlos syndrome
hypophosphatasia
ALPL
B4GALT7
asfotase alfa
Online Access:http://www.sciencedirect.com/science/article/pii/S2376060522000554

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http://www.sciencedirect.com/science/article/pii/S2376060522000554

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