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Article

Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa.

Orphanet journal of rare diseases - 19 Dec 2019

Oh Jin Kyun, Lima de Carvalho Jose Ronaldo, Sun Young Joo, Ragi Sara, Yang Jing, Levi Sarah R, Ryu Joseph, Bassuk Alexander G, Mahajan Vinit B, Tsang Stephen H

Abstract excerpt

BACKGROUND: Mutations in the Kelch-like protein 7 (KLHL7) represent a recently described and, to date, poorly characterized etiology of inherited retinal dystrophy. Dominant mutations in KLHL7 are a cause of isolated, non-syndromic retinitis pigmentosa (RP). In contrast, recessive loss-of-function mutations are known to cause Crisponi or Bohring-Opitz like cold induced sweating syndrome-3 (BOS-3). In this study,...

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Identifiers

PMID: 31856884
DOI: 10.1186/s13023-019-1275-2
PMCID: PMC6924004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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