What question did this study set out to answer?

The research aims to describe the genotypic spectrum of Bardet-Biedl syndrome (BBS) in an Indian cohort.

March 4, 20260 citations

Bardet-Biedl Syndrome in India: Genotypic Spectrum and Clinical Features From a Single-Centre Cohort.

DTDeepak ThiriveediJawaharlal Nehru Medical College MGManjunath GoroshiSarojini Naidu Medical College VGVanishri GanakumarJawaharlal Nehru Medical College

Puntos clave

The research aims to describe the genotypic spectrum of Bardet-Biedl syndrome (BBS) in an Indian cohort.
Conducted a descriptive analysis of BBS cases at a single center.
Focused on genotypes associated with Bardet-Biedl syndrome.
Identified key genetic variations prevalent in the population.
Frequent genetic involvement of BBS10 and BBS2 was observed.
The findings highlight the significance of population-specific genetic data.
Early genetic evaluation is suggested for consanguineous families.

Resumen

This study provides descriptive insights into the genotypic spectrum of BBS in an Indian cohort, with frequent involvement of BBS10 and BBS2. The findings underscore the importance of population-specific genetic data and highlight the potential value of early genetic evaluation in consanguineous families.

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Cite This Study

Thiriveedi et al. (Sun,) studied this question.

synapsesocial.com/papers/69a7cc7ad48f933b5eed80df https://doi.org/https://doi.org/10.1111/cen.70117

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