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Article

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

American journal of human genetics - 1 Jun 1999

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Chromosomes, Human, Pair 17

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Identifiers

PMID: 10330353
DOI: 10.1086/302416
PMCID: PMC1377909

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Related research

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Research trail→

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Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21.PMID 10330353Read ↗

A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population.Semantic proximity Read ↗

Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)Semantic proximity Read ↗

Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.Semantic proximity Read ↗

The natural history of sclerosteosisSemantic proximity Read ↗

Genetics of Sost/SOST in sclerosteosis and van Buchem disease animal modelsSemantic proximity Read ↗

Mapping of Autosomal Dominant Osteopetrosis Type II (Albers-Schönberg Disease) to Chromosome 16p13.3Semantic proximity Read ↗

A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34.Semantic proximity Read ↗

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.Semantic proximity Read ↗

Headache and Sleep-Related Breathing Disorders Among Patients With Sclerosteosis and Disease Carriers: The First Family in ItalySemantic proximity Read ↗

A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis.Semantic proximity Read ↗

Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation.Semantic proximity Read ↗

Localization of the gene for fibrodysplasia ossificans progressiva (FOP) to chromosome 17q21-22.Semantic proximity Read ↗

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