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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Genes (Basel)
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: MDPI 2019
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6826576/
https://ncbi.nlm.nih.gov/pubmed/31614862
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes10100799
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