Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome

Bardet–Biedl syndrome is a rare autosomal recessive form of syndromic obesity which is characterized by retinal degeneration, obesity, polydactyly, cognitive impairment, and renal and urogenital anomalies. In this study, we used whole-exome sequencing (WES) to investigate the underlying mutations in...

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Detalles Bibliográficos
Autores principales: Dehghan, Roghayeh, Behnam, Mahdiyeh, Salehi, Mansoor, Kelishadi, Roya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Series
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9334124/
https://www.ncbi.nlm.nih.gov/pubmed/35912300
http://dx.doi.org/10.1155/2022/6110775

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9334124/
https://www.ncbi.nlm.nih.gov/pubmed/35912300
http://dx.doi.org/10.1155/2022/6110775

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