Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.
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D. Sillence | F. Glorieux | J. Majewski | J. Metcalf | F. Rauch | M. Munteanu | F. Fassier | A. Biggin | S. Fahiminiya | M. Munteanu | C. Munns | M. Hinsdale | N. Poudel | David O Sillence | Myron E Hinsdale