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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

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