Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6

Variations in genes encoding for the enzymes responsible for synthesizing the linker region of proteoglycans may result in recessive conditions known as “linkeropathies”. The two phenotypes related to mutations in genes B4GALT7 and B3GALT6 (encoding for galactosyltransferase I and II respectively) a...

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Detalles Bibliográficos
Autores principales: Caraffi, Stefano Giuseppe, Maini, Ilenia, Ivanovski, Ivan, Pollazzon, Marzia, Giangiobbe, Sara, Valli, Maurizia, Rossi, Antonio, Sassi, Silvia, Faccioli, Silvia, Di Rocco, Maja, Magnani, Cinzia, Campos-Xavier, Belinda, Unger, Sheila, Superti-Furga, Andrea, Garavelli, Livia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6826576/
https://www.ncbi.nlm.nih.gov/pubmed/31614862
http://dx.doi.org/10.3390/genes10100799

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6826576/
https://www.ncbi.nlm.nih.gov/pubmed/31614862
http://dx.doi.org/10.3390/genes10100799

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