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Article

Haplotype analysis of the USH1D locus and genotype-phenotype correlations.

Clinical genetics - 1 Jul 2001

Liu X Z, Blanton S H, Bitner-Glindzicz M, Pandya A, Landa B, MacArdle B, Rajput K, Bellman S, Webb B T, Ping X, Smith R J, Nance W E

Abstract excerpt

Usher syndrome (USH) is characterised by hearing impairment and progressive pigmentary retinopathy. USH can be divided into three subtypes based on the severity and progression of the major clinical findings. These subtypes are genetically heterogeneous, with at least six loci for USH1, three for USH2 and one for USH3. In the present study, five unrelated consanguineous families with USH1 were analysed for...

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Source

Identifiers

PMID: 11531971
DOI: 10.1034/j.1399-0004.2001.600109.x

Genes

CDH23

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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Haplotype analysis of the USH1D locus and genotype-phenotype correlations.PMID 11531971Read ↗

USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1.Semantic proximity Read ↗

USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23.Semantic proximity Read ↗

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Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.Semantic proximity Read ↗

A Novel Biallelic Variant in CDH23 Gene in a Family with Atypical USH1D Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation.Semantic proximity Read ↗

Spectrum of mutations in USH2A in British patients with Usher syndrome type II.Semantic proximity Read ↗

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Identification of a novel locus for a USH3 like syndrome combined with congenital cataract.Semantic proximity Read ↗

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