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

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 mo...

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Detalles Bibliográficos
Autores principales:	Ritelli, Marco, Dordoni, Chiara, Cinquina, Valeria, Venturini, Marina, Calzavara-Pinton, Piergiacomo, Colombi, Marina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590203/ https://www.ncbi.nlm.nih.gov/pubmed/28882145 http://dx.doi.org/10.1186/s13023-017-0704-3

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