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October 26, 2009Journal of Medical Genetics

Clinical and molecular characterisation of Bardet–Biedl syndrome in consanguineous populations: the power of homozygosity mapping

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Authors

LSLeen Abu SafiehKing Fahd Medical CityMAMohammed A. AldahmeshKing Faisal Specialist Hospital & Research CentreHSHanan E. ShamseldinKing Faisal Specialist Hospital & Research Centre

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Cite This Study

Safieh et al. (2009) studied this question.

synapsesocial.com/papers/6aa0c586b59423aee28d322bhttps://doi.org/10.1136/jmg.2009.070755
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Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1<i>BBS7</i>and<i>TTC8</i>(<i>BBS8</i>) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population2009 · 48 citations
  2. 2Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.1997 · 235 citations
  3. 3Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype1998 · 56 citations