Polydactyly

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  Subject Areas on Research

  • Bardet-Biedl Syndrome in an African-American patient: should the diagnostic criteria be expanded to include hydrometrocolpos? 
  • Disruption of a ciliary B9 protein complex causes Meckel syndrome. 
  • Haploinsufficient phenotypes in Bmp4 heterozygous null mice and modification by mutations in Gli3 and Alx4. 
  • Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. 
  • Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. 
  • The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa. 
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  Keywords of People

  • Hogan, Brigid L. M., George Barth Geller Distinguished Professor, Cell Biology