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...

Full description

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

Similar Items

Similar Items