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Article

Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype.

Journal of medical genetics - 1 Dec 2002

Vervoort V S, Viljoen D, Smart R, Suthers G, DuPont B R, Abbott A, Schwartz C E

Abstract excerpt

A patient with microcephaly, microphthalmia, ectrodactyly, and prognathism (MMEP) and mental retardation was previously reported to carry a de novo reciprocal t(6;13)(q21;q12) translocation. In an attempt to identify the presumed causative gene, we mapped the translocation breakpoints using fluorescence in situ hybridisation (FISH). Two overlapping genomic clones crossed the breakpoint on the der(6) chromosome,...

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Share to Chromosome Breakage
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Foot Deformities, Congenital

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Source

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Identifiers

PMID: 12471201
DOI: 10.1136/jmg.39.12.893
PMCID: PMC1757218

Genes

SNX3

Provenance

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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