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Article

Phenotypic subregions within the split-hand/foot malformation 1 locus.

Human genetics - 1 Mar 2016

Rasmussen Malene B, Kreiborg Sven, Jensen Per, Bak Mads, Mang Yuan, Lodahl Marianne, Budtz-Jørgensen Esben, Tommerup Niels, Tranebjærg Lisbeth, Rendtorff Nanna D

Abstract excerpt

Split-hand/foot malformation 1 (SHFM1) is caused by chromosomal aberrations involving the region 7q21.3, DLX5 mutation, and dysregulation of DLX5/DLX6 expression by long-range position effects. SHFM1 can be isolated or syndromic with incomplete penetrance and a highly variable clinical expression, possibly influenced by sex and imprinting. We report on a new family with five affected individuals with syndromic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26839112
DOI: 10.1007/s00439-016-1635-0

Genes

DLX5
DLX6

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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