Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis
Klopocki, Eva, Lohan, Silke, Brancati, Francesco, Koll, Randi, Brehm, Anja, Seemann, Petra, Dathe, Katarina, Stricker, Sigmar, Hecht, Jochen, Bosse, Kristin, Betz, Regina C., Garaci, Francesco Giuseppe, Dallapiccola, Bruno, Jain, Mahim, Muenke, Maximilian, Ng, Vivian C.W., Chan, Wilson, Chan, Danny, Mundlos, Stefan
Published in American journal of human genetics (07.01.2011)
Published in American journal of human genetics (07.01.2011)
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COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid
Ho, Matthew S.P., Tsang, Kwok Yeung, Lo, Rebecca L.K., Susic, Miki, Mäkitie, Outi, Chan, Tori W.Y., Ng, Vivian C.W., Sillence, David O., Boot-Handford, Raymond P., Gibson, Gary, Cheung, Kenneth M.C., Cole, William G., Cheah, Kathryn S.E., Chan, Danny
Published in Human molecular genetics (15.05.2007)
Published in Human molecular genetics (15.05.2007)
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A splice-site mutation leads to haploinsufficiency of EXT2 mRNA for a dominant trait in a large family with multiple osteochondromas
Yang, Liu, Hui, Wing Sum, Chan, Wilson C. W., Ng, Vivian C. W., Yam, Teresa H. Y., Leung, Helen C. M., Huang, Jian-Dong, Shum, Daisy K. Y., Jie, Qiang, Cheung, Kenneth M. C., Cheah, Kathryn S. E., Luo, Zhoujing, Chan, Danny
Published in Journal of orthopaedic research (01.11.2010)
Published in Journal of orthopaedic research (01.11.2010)
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