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Article

Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5.

European journal of medical genetics - 1 Aug 2013

Kannu P, Campos-Xavier A B, Hull D, Martinet D, Ballhausen D, Bonafé L

Abstract excerpt

Genomic rearrangements at chromosome 13q31.3q32.1 have been associated with digital anomalies, dysmorphic features, and variable degree of mental disability. Microdeletions leading to haploinsufficiency of miR17∼92, a cluster of micro RNA genes closely linked to GPC5 in both mouse and human genomes, has recently been associated with digital anomalies in the Feingold like syndrome. Here, we report on a boy with...

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Topics

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Share to Chromosome Duplication
Share to Chromosomes, Human, Pair 13

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to Facies

Share to Glypicans

Share to Polydactyly

Share to Quantitative Trait, Heritable

Share to RNA, Long Noncoding

Source

Identifiers

PMID: 23792790
DOI: 10.1016/j.ejmg.2013.06.001

Genes

GPC5

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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