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Article

Split hand/foot malformation associated with 20p12.1 deletion: A case report.

European journal of medical genetics - 1 Apr 2020

Ruaud Lyse, Flöttmann Ricarda, Spielmann Malte, Escande Fabienne, Van Maldergem Lionel, Mundlos Stefan, Piard Juliette

Abstract excerpt

Split hand/foot malformation (SHFM) or ectrodactyly is a rare congenital disorder affecting limb development characterized by clinical and genetic heterogeneity. SHFM is usually inherited as an autosomal dominant trait with incomplete penetrance. Isolated and syndromic forms are described. The extent of associated malformations is highly variable and multiple syndromes with clinical and genetic overlap have been...

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PMID: 31698100
DOI: 10.1016/j.ejmg.2019.103805

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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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