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

Internet

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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