Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome

Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome

Abstract Background Spondylodysplastic EDS (spEDS) is a rare connective tissue disorder that groups the phenotypes caused by biallelic B4GALT7, B3GALT6, and SLC39A13 mutations. In the 2017 EDS nosology, minimal criteria (general and gene-specific) for a clinical suspicion of spEDS have been proposed...

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Bibliographic Details
Main Authors: Marco Ritelli, Chiara Dordoni, Valeria Cinquina, Marina Venturini, Piergiacomo Calzavara-Pinton, Marina Colombi
Format: Article
Language:English
Published: BMC 2017-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Spondylodysplastic Ehlers-Danlos syndrome
B4GALT7
Larsen of Reunion Island syndrome
Linkerophaties
Online Access:http://link.springer.com/article/10.1186/s13023-017-0704-3

Internet

http://link.springer.com/article/10.1186/s13023-017-0704-3

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