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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Detalles Bibliográficos
Autores principales: Dallali, Hamza, Kheriji, Nadia, Kammoun, Wafa, Mrad, Mehdi, Soltani, Manel, Trabelsi, Hajer, Hamdi, Walid, Bahlous, Afef, Ben Ahmed, Melika, Mahjoub, Faten, Jamoussi, Henda, Abdelhak, Sonia, Kefi, Rym
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8526562/
https://www.ncbi.nlm.nih.gov/pubmed/34691137
http://dx.doi.org/10.3389/fgene.2021.664963

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