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Article

Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb development.

Philosophical transactions of the Royal Society of London. Series B, Biological sciences - 19 Dec 2016

Klar Amar J S

Abstract excerpt

Genetic aberrations of several unlinked loci cause human congenital split hand/foot malformation (SHFM) development. Mutations of the DLX5 (distal-less) transcription factor-encoding gene in chromosome 7 cause SHFM through haploinsufficiency, but the vast majority of cases result from heterozygous chromosomal aberrations of the region without mutating the DLX5 gene. To resolve this paradox, we invoke a...

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Share to Chromosome Segregation
Share to Chromosomes, Human, Pair 7

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

Share to Gene Expression Regulation, Developmental

Share to Limb Deformities, Congenital

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Source

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Identifiers

PMID: 27821526
DOI: 10.1098/rstb.2015.0415
PMCID: PMC5104513

Genes

DLX5

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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