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Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance.

Genes - 29 Oct 2020

Jeziorny Krzysztof, Antosik Karolina, Jakiel Paulina, Młynarski Wojciech, Borowiec Maciej, Zmysłowska Agnieszka

Abstract excerpt

Bardet-Biedl syndrome (BBS) is a rare autosomal recessively inherited disease with major clinical symptoms such as: obesity, retinal degeneration, polydactyly and renal abnormalities. The aim of the study was to assess the spectrum of gene variants among patients with BBS, identified on the basis of nationwide genetic studies of monogenic diabetes in Polish population. Out of 575 patients enrolled for genetic...

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Identifiers

PMID: 33138063
DOI: 10.3390/genes11111283
PMCID: PMC7693916

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