Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects

Heparan and chondroitin/dermatan sulfated proteoglycans have a wide range of roles in cellular and tissue homeostasis including growth factor function, morphogen gradient formation, and co-receptor activity. Proteoglycan assembly initiates with a xylose monosaccharide covalently attached by either x...

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Veröffentlicht in:Am J Hum Genet
Hauptverfasser: Munns, Craig F., Fahiminiya, Somayyeh, Poudel, Nabin, Munteanu, Maria Cristina, Majewski, Jacek, Sillence, David O., Metcalf, Jordan P., Biggin, Andrew, Glorieux, Francis, Fassier, François, Rauch, Frank, Hinsdale, Myron E.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2015
Schlagworte:
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4457947/
https://ncbi.nlm.nih.gov/pubmed/26027496
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.04.017
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