Bardet-Biedl Syndrome

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  Subject Areas on Research

  • Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome. 
  • Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity. 
  • Screening for hormonal, monogenic, and syndromic disorders in obese infants and children.