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Article

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

Orphanet journal of rare diseases - 7 Sept 2017

Ritelli Marco, Dordoni Chiara, Cinquina Valeria, Venturini Marina, Calzavara-Pinton Piergiacomo, Colombi Marina

Abstract excerpt

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, but molecular analysis is required to reach a definite diagnosis. The majority of spEDS patients presented with short...

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PMID: 28882145
DOI: 10.1186/s13023-017-0704-3
PMCID: PMC5590203

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