Autosomal recessive disorder otospondylomegaepiphyseal dysplasia (OSMED) is associated with loss-of-function mutations in the COL11A2 gene.

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Publication year
2000
Author(s)
Melkoniemi, M.
Brunner, H.G.
Manouvrier, S.
Hennekam, R.C.M.
Superti-Furga, A.
Kaariainen, H.
Pauli, R.M.
Essen, T. van
Warman, M.L.
Bonaventure, J.
Miny, J.
Ala-Kokko, L.
Source
American Journal of Human Genetics, 66, (2000), pp. 368-377
ISSN
DOI
Publication type
Article / Letter to editor
Please use this identifier to cite or link to this item: https://hdl.handle.net/2066/185873   https://hdl.handle.net/2066/185873
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