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