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Article

Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I.

Journal of medical genetics - 1 Dec 2014

Rattanasopha Sawitree, Tongkobpetch Siraprapa, Srichomthong Chalurmpon, Kitidumrongsook Pravit, Suphapeetiporn Kanya, Shotelersuk Vorasuk

Abstract excerpt

BACKGROUND: Split hand/split foot malformation (SHFM) type 1 is characterised by missing central digital rays with clefts of the hands and/or feet, which was linked to chromosome 7q21.3. While double knockout of Dlx5 and Dlx6 resulted in limb defects in mice, the majority of patients with SHFM1 had only heterozygous chromosomal abnormalities. OBJECTIVE: To investigate the clinical and molecular features of a...

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Source

Identifiers

PMID: 25332435
DOI: 10.1136/jmedgenet-2014-102576

Genes

DLX5
DLX6

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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