| Literature DB >> 10798366 |
A R Afzal1, A Rajab, C Fenske, A Crosby, N Lahiri, E Ternes-Pereira, V A Murday, R Houlston, M A Patton, S Jeffery.
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.Entities:
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Year: 2000 PMID: 10798366 DOI: 10.1007/s004390051049
Source DB: PubMed Journal: Hum Genet ISSN: 0340-6717 Impact factor: 4.132