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Article

A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32.

BMC medical genetics - 19 Nov 2010

Hattersley Kathryn, Laurie Kate J, Liebelt Jan E, Gecz Jozef, Durkin Shane R, Craig Jamie E, Burdon Kathryn P

Abstract excerpt

BACKGROUND: A novel phenotype consisting of cataract, mental retardation, erythematous skin rash and facial dysmorphism was recently described in an extended pedigree of Australian Aboriginal descent. Large scale chromosomal re-arrangements had previously been ruled out. We have conducted a genome-wide scan to map the linkage region in this family. METHODS: Genome-wide linkage analysis using Single Nucleotide...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21092079
DOI: 10.1186/1471-2350-11-165
PMCID: PMC2995478

Genes

EPHA2
EPHB2
ZBTB17

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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