Homozygosity for Frameshift Mutations in XYLT2 Result in a...

The American Journal of Human Genetics 2015 / 06 Vol. 96; Iss. 6

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

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, Fr
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Volume:
96
Language:
english
Journal:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2015.04.017
Date:
June, 2015
File:
PDF, 1.22 MB
english, 2015
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