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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Detalles Bibliográficos
Autores principales: Jeziorny, Krzysztof, Antosik, Karolina, Jakiel, Paulina, Młynarski, Wojciech, Borowiec, Maciej, Zmysłowska, Agnieszka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7693916/
https://www.ncbi.nlm.nih.gov/pubmed/33138063
http://dx.doi.org/10.3390/genes11111283

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7693916/
https://www.ncbi.nlm.nih.gov/pubmed/33138063
http://dx.doi.org/10.3390/genes11111283

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