Autosomal Recessive Disorder Otospondylomegaepiphyseal...

The American Journal of Human Genetics 2000 Vol. 66; Iss. 2

Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene

Miia Melkoniemi, Han G. Brunner, Sylvie Manouvrier, Raoul Hennekam, Andrea Superti-Furga, Helena Kääriäinen, Richard M. Pauli, Ton van Essen, Matthew L. Warman, Jacky Bonaventure, Peter Miny, Leena Al
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Volume:
66
Year:
2000
Language:
english
DOI:
10.1086/302750
File:
PDF, 571 KB
english, 2000
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