(Q24337891)
Statements
Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects (English)
Somayyeh Fahiminiya
Nabin Poudel
Maria Cristina Munteanu
Jacek Majewski
David O Sillence
Jordan P Metcalf
Francis Glorieux
François Fassier
Myron E Hinsdale
28 May 2015