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Article

Genetic regulatory pathways of split-hand/foot malformation.

Clinical genetics - 1 Jan 2019

Kantaputra Piranit N, Carlson Bruce M

Abstract excerpt

Split-hand/foot malformation (SHFM) is caused by mutations in TP63, DLX5, DLX6, FGF8, FGFR1, WNT10B, and BHLHA9. The clinical features of SHFM caused by mutations of these genes are not distinguishable. This implies that in normal situations these SHFM-associated genes share an underlying regulatory pathway that is involved in the development of the central parts of the hands and feet. The mutations in...

Topics

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Bone Morphogenetic Proteins
Fibroblast Growth Factor 8
Foot Deformities, Congenital
Hand Deformities, Congenital
Homeodomain Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Limb Deformities, Congenital

Wnt Signaling Pathway

Source

Identifiers

PMID: 30101460
DOI: 10.1111/cge.13434

Genes

BHLHA9
DLX5
DLX6
FGF8
FGFR1
SHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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