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Article

Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.

Japanese journal of ophthalmology - 1 Jul 2018

Kurata Kentaro, Hosono Katsuhiro, Hikoya Akiko, Kato Akihiko, Saitsu Hirotomo, Minoshima Shinsei, Ogata Tsutomu, Hotta Yoshihiro

Abstract excerpt

PURPOSE: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by retinal dystrophy, renal dysfunction, central obesity, mental impairment, polydactyly, and hypogonadism. Only limited information on BBS is available from Japanese patients. In addition, there are currently no reports of Japanese patients with BBS caused by BBS10 mutations. The purpose of this study was to present the...

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Source

Identifiers

PMID: 29666954
DOI: 10.1007/s10384-018-0591-8

Genes

BBS10
ERG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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