Search Results - "van Roij, Mirjam H.H."

Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype by van Roij, Mirjam H.H., Mizumoto, Shuji, Yamada, Shuhei, Morgan, Tim, Tan-Sindhunata, M.B., Meijers-Heijboer, H., Verbeke, J.I.L.M., Markie, David, Sugahara, Kazuyuki, Robertson, Stephen P.

“…Spondyloepiphyseal dysplasia (SED), Omani type (OMIM 608637) is a recessively inherited skeletal dysplasia previously described in two distantly related…”
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PPIB Mutations Cause Severe Osteogenesis Imperfecta by van Dijk, Fleur S., Nesbitt, Isabel M., Zwikstra, Eline H., Nikkels, Peter G.J., Piersma, Sander R., Fratantoni, Silvina A., Jimenez, Connie R., Huizer, Margriet, Morsman, Alice C., Cobben, Jan M., van Roij, Mirjam H.H., Elting, Mariet W., Verbeke, Jonathan I.M.L., Wijnaendts, Liliane C.D., Shaw, Nick J., Högler, Wolfgang, McKeown, Carole, Sistermans, Erik A., Dalton, Ann, Meijers-Heijboer, Hanne, Pals, Gerard

“…Deficiency of cartilage-associated protein (CRTAP) or prolyl 3-hydroxylase 1(P3H1) has been reported in autosomal-recessive lethal or severe osteogenesis…”
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