Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein
Top Cited Papers
- 1 March 2001
- journal article
- case report
- Published by Elsevier in American Journal of Human Genetics
- Vol. 68 (3) , 577-589
- https://doi.org/10.1086/318811
Abstract
No abstract availableKeywords
This publication has 48 references indexed in Scilit:
- Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21American Journal of Human Genetics, 1999
- Splicing Defects in the Ataxia-Telangiectasia Gene, ATM: Underlying Mutations and ConsequencesAmerican Journal of Human Genetics, 1999
- Sclerosteosis: report of a case in a black African manClinical Genetics, 1998
- Van Buchem Disease (Hyperostosis Corticalis Generalisata) Maps to Chromosome 17q12-q21American Journal of Human Genetics, 1998
- Homozygosity and Linkage‐Disequilibrium Mapping of the Urofacial (Ochoa) Syndrome Gene to a 1‐cM Interval on Chromosome 10q23‐q24American Journal of Human Genetics, 1997
- Prediction of complete gene structures in human genomic DNAJournal of Molecular Biology, 1997
- Ectodermal Patterning in Vertebrate EmbryosDevelopmental Biology, 1997
- The syndromic status of sclerosteosis and van Buchem diseaseClinical Genetics, 1984
- Two cases of Van Buchem's disease.Journal of Neurology, Neurosurgery & Psychiatry, 1982
- Sclerosteosis — An autosomal recessive disorderClinical Genetics, 1977