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Characteristics of genotype and phenotype in Chinese patients with Bardet-Biedl syndrome.

International ophthalmology - 1 Sept 2020

Tao Tianchang, Wang Lei, Chong Weihua, Yang Liping, Li Genlin

Abstract excerpt

PURPOSE: To investigate complex and different phenotypes in seven Chinese patients diagnosed with Bardet-Biedl syndrome (BBS) and carrying pathogenic mutations. METHODS: Seven unrelated BBS patients were enrolled. Their medical and ophthalmic histories were reviewed, and comprehensive clinical examinations, such as fundus photography, optical coherence tomography, and medical imaging, were performed. A specific...

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Source

Identifiers

PMID: 32448990
DOI: 10.1007/s10792-020-01415-3

Genes

BBS10
BBS12
BBS7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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