Article

Whole Exome Sequencing in 11 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet- Biedl Syndrome

2024-12-17

Abstract excerpt

<title>Abstract</title> <p><italic>Objective:</italic> Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare autosomal recessive disorder characterized by a broad spectrum of clinical features including renal anomalies, learning disabilities, postaxial polydactyly, retinal dystrophy, obesity, and hypogenitalism. BBS is a heterogeneous syndrome, both genetically and clinically. To date, genetic variants in more than...

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Literature Corpus work: 6efd2dd3-1d4c-5fc3-8463-6abe5594d32a
DOI: 10.21203/rs.3.rs-5232598/v1

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