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Article

ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa.

Human mutation - 1 Mar 2016

Xu Mingchu, Eblimit Aiden, Wang Jing, Li Jianli, Wang Feng, Zhao Li, Wang Xia, Xiao Ningna, Li Yumei, Wong Lee-Jun C, Lewis Richard A, Chen Rui

Abstract excerpt

Retinitis pigmentosa (RP) is a genetically heterogeneous retinal disorder. Despite the numerous genes associated with RP already identified, the genetic basis remains unknown in a substantial number of patients and families. In this study, we performed whole-exome sequencing to investigate the molecular basis of a syndromic RP case that cannot be solved by mutations in known disease-causing genes. After applying...

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Source

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Identifiers

PMID: 26662040
DOI: 10.1002/humu.22940
PMCID: PMC5383450

Genes

ADIPOR1

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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