Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome.

BioMed research international - 1 Jan 2021

Zhang Yue, Xu Manhong, Zhang Minglian, Yang Guoxing, Li Xiaorong

Abstract excerpt

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by polydactyly, obesity, rod-cone dystrophy, and mental retardation. Twenty-one genes have been identified as causing BBS. This study collected a BBS pedigree from two patients and performed whole-exome sequencing on one patient. We identified a novel homozygous variant c.1114C>T (p.Q372X) in the BBS9 of the two siblings. This...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bardet-Biedl Syndrome
Share to China
Share to Cytoskeletal Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Genetic Predisposition to Disease

Share to Mutation

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 34692830
DOI: 10.1155/2021/4514967
PMCID: PMC8536422

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome.PMID 34692830Read ↗

The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan.Semantic proximity Read ↗

Clinical and Genetic Analysis of a Compound Heterozygous Mutation in the BBS10 Gene in Chinese People With Bardet Biedl syndromeSemantic proximity Read ↗

Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome.Semantic proximity Read ↗

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

Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.Semantic proximity Read ↗

Whole Exome Sequencing in 11 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet- Biedl SyndromeSemantic proximity Read ↗

Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families.Semantic proximity Read ↗

Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.Semantic proximity Read ↗

A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.Semantic proximity Read ↗

Characteristics of genotype and phenotype in Chinese patients with Bardet-Biedl syndrome.Semantic proximity Read ↗

Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome.Semantic proximity Read ↗

Bardet-Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.