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

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

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...

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Bibliographic Details
Main Authors: Krzysztof Jeziorny, Karolina Antosik, Paulina Jakiel, Wojciech Młynarski, Maciej Borowiec, Agnieszka Zmysłowska
Format: Article
Language:English
Published: MDPI AG 2020-10-01
Series:Genes
Subjects:
Bardet–Biedl syndrome
NGS method
obesity
hyperglycemia
insulin resistance
Online Access:https://www.mdpi.com/2073-4425/11/11/1283

Internet

https://www.mdpi.com/2073-4425/11/11/1283

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