Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report

Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report

Juvenile-onset diabetes may occur in the context of a rare syndromic presentation, suggesting a monogenic etiology rather than a common multifactorial diabetes. In the present study, we report the case of a young diabetic Tunisian patient presenting learning problems, speech deficits, short stature,...

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Bibliographic Details
Main Authors: Hamza Dallali, Nadia Kheriji, Wafa Kammoun, Mehdi Mrad, Manel Soltani, Hajer Trabelsi, Walid Hamdi, Afef Bahlous, Melika Ben Ahmed, Faten Mahjoub, Henda Jamoussi, Sonia Abdelhak, Rym Kefi
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-10-01
Series:Frontiers in Genetics
Subjects:
monogenic diabetes
whole exome sequencing
Bardet-Biedl syndrome
oligogenic inheritance
bioinformatic analysis
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.664963/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.664963/full

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