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Hum Genet ; 106(3): 351-4, 2000 Mar.
Article in English | MEDLINE | ID: mdl-10798366

ABSTRACT

Autosomal recessive Robinow syndrome is a form of mesomelic dwarfism with multiple rib and vertebral anomalies. Using autozygosity mapping we have identified a genetic locus (RBNW1) for this syndrome at chromosome 9q22 in seven consanguineous families from Oman. Our results indicate that the gene lies within a 4 cM region between markers D9S1836 and D9S1803 (maximum multipoint LOD score 12.3). In addition, we have analysed two non-Omani families with autosomal recessive Robinow and found no genetic heterogeneity.


Subject(s)
Chromosomes, Human, Pair 9/genetics , Dwarfism/genetics , Bone and Bones/abnormalities , Brazil , Chromosome Mapping , Consanguinity , Genes, Recessive , Genetic Linkage , Haplotypes , Humans , Lod Score , Microsatellite Repeats , Oman , United Kingdom
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