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|Title: ||Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21|
|Other Titles: ||Journal of Human Genetics|
|Authors: ||Balemans, Wendy|
Ende, Jenneke Van Den
Alves, Auristela Freire Paes
Dikkers, Frederik G.
Willems, Patrick J.
Melo, Neli Almeida de
Alves, Cristiane Freire
Stratakis, Constantine A.
Hill, Suvimol C.
Hul, Wim Van
|Keywords: ||Sclerosteosis;van Buchem disease;Hyperostosis;Chromosome 17;Bone density|
|Issue Date: ||1999|
|Publisher: ||Journal of Human Genetics|
|Abstract: ||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 gigantism and hand abnormalities. In the present
study, linkage analysis in two consanguineous families
with sclerosteosis resulted in the assignment of the
sclerosteosis gene to chromosome 17q12-q21. This region
was analyzed because of the recent assignment to
this chromosomal region of the gene causing van
Buchem disease, a rare autosomal recessive condition
with a hyperostosis similar to sclerosteosis. Because of
the clinical similarities between sclerosteosis and van
Buchem disease, it has previously been suggested that
both conditions might be caused by mutations in the
same gene. Our study now provides genetic evidence for
|Description: ||Texto completo. Acesso restrito. p. 1661–1669|
|Appears in Collections:||Artigos Publicados em Periódicos (Medicina)|
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