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Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22

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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.

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Authors and Affiliations

  1. Medical Genetics Unit, St. George's Hospital Medical School, London, UK, , , , ,

    A.R. Afzal, C. Fenske, A. Crosby, N. Lahiri, V.A. Murday, M.A. Patton & S. Jeffery

  2. Medical Genetics Unit, DGHA, Ministry of Health, Sultanate of Oman, , , , ,

    A. Rajab

  3. Departamento de Clinica Medica, Universidade Federal de Santa Catarina, Florianopolis, SC, Brazil, , , , ,

    E. Ternes-Pereira

  4. Section of Genetics, Institute of Cancer Research, Sutton, Surrey, UK, , , , ,

    R. Houlston

Authors
  1. A.R. Afzal
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  2. A. Rajab
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  3. C. Fenske
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  4. A. Crosby
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  5. N. Lahiri
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  6. E. Ternes-Pereira
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  7. V.A. Murday
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  8. R. Houlston
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  9. M.A. Patton
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  10. S. Jeffery
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Afzal, A., Rajab, A., Fenske, C. et al. Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22. Hum Genet 106, 351–354 (2000). https://doi.org/10.1007/s004390000242

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  • DOI: https://doi.org/10.1007/s004390000242

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