Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21.

Sclerosteosis is an uncommon, autosomal recessive, progressive, sclerosing, bone dysplasia characterized by generalized osteosclerosis and hyperostosis of the skeleton, affecting mainly the skull and mandible. In most patients this causes facial paralysis and hearing loss. Other features are giganti...

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Hauptverfasser: Balemans, W, Van Den Ende, J, Freire Paes-Alves, A, Dikkers, F G, Willems, P J, Vanhoenacker, F, de Almeida-Melo, N, Alves, C F, Stratakis, C A, Hill, S C, Van Hul, W
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1999
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377909/
https://ncbi.nlm.nih.gov/pubmed/10330353
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