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Article

Exome Sequencing in 9 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet-Biedl Syndrome.

Biochemical genetics - 1 Apr 2026

Seyedtaghia Mohammad Reza, Habibi Mohsen, Hashemi-Gorji Farzad, Tehrani-Fateh Sahand, Moghimi Parinaz, Golestanifar Ahmad, Ghasemi Mohammad-Reza, Sadeghi Hossein, Mirfakhraie Reza, Mousavi Pegah, Miryounesi Mohammad, Salehpour Shadab

Abstract excerpt

Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare autosomal recessive disorder characterized by a broad spectrum of clinical features including renal anomalies, learning disabilities, postaxial polydactyly, retinal dystrophy, obesity, and hypogonadism. BBS is a heterogeneous syndrome, both genetically and clinically. To date, genetic variants in more than 28 genes have been associated with this syndrome and its...

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Source

Identifiers

PMID: 40252141
DOI: 10.1007/s10528-025-11101-7

Genes

BBS9
BBS10
BBS7
CEP290
MKKS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Exome Sequencing in 9 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet-Biedl Syndrome.PMID 40252141Read ↗

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