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Article

Split Hand-Foot Malformations-Unveiling Unique Molecular Diagnosis From a Brazilian Cohort.

Clinical genetics - 1 Apr 2025

Cás Eduardo Da, Ceroni José Ricardo Magliocco, Yamamoto Guilherme Lopes, Castro Matheus Augusto Araújo, Bisneto Edgard França, Jorge Alexander Augusto de Lima, Filho Joao Bosco Oliveira, Kim Chong Ae, Krepischi Ana Cristina Vitorino, Bertola Débora Romeo

Abstract excerpt

Split hand-foot malformation (SHFM) is a congenital limb malformation affecting primarily the central rays of the hands and/or feet, with variable expressivity, incomplete penetrance and syndromic forms. It is genetically heterogeneous, including point mutations and structural variants in different loci. Five individuals with SHFM were clinically evaluated in a Tertiary Center in Brazil: four of them presented...

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Brazil
Child
Child, Preschool
Cohort Studies
Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Limb Deformities, Congenital

Source

Identifiers

PMID: 39648035
DOI: 10.1111/cge.14666

Genes

MAP3K20
TP63

Provenance

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

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