Phenotypic diversity observed in a chinese patient cohort with biallelic variants in bardet-biedl syndrome genes

HIGHLIGHTS

• who: Bardet-Biedl syndrome and colleagues from the Beijing Institute of Ophthalmology Beijing Tongren Hospital, Capital Medical University have published the research: Phenotypic diversity observed in a Chinese patient cohort with biallelic variants in Bardet-Biedl syndrome genes, in the Journal: (JOURNAL)
• what: The authors described the clinical and genetic features of 34 patients from 31 unrelated families who carry biallelic variants in one of the BBS genes. This study provides the first description of mutated gene profiles identified in a relatively large cohort of Chinese patients with BBS or non-syndromic BBSrelated RD and . . .
  

   

  

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