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Article

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).

European journal of human genetics : EJHG - 1 Nov 2011

Armour Christine M, Bulman Dennis E, Jarinova Olga, Rogers Richard Curtis, Clarkson Kate B, DuPont Barbara R, Dwivedi Alka, Bartel Frank O, McDonell Laura, Schwartz Charles E, Boycott Kym M, Everman David B, Graham Gail E

Abstract excerpt

Split-hand/foot malformation with long-bone deficiency (SHFLD) is a relatively rare autosomal-dominant skeletal disorder, characterized by variable expressivity and incomplete penetrance. Although several chromosomal loci for SHFLD have been identified, the molecular basis and pathogenesis of most SHFLD cases are unknown. In this study we describe three unrelated kindreds, in which SHFLD segregated with distinct...

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Identifiers

PMID: 21629300
DOI: 10.1038/ejhg.2011.97
PMCID: PMC3198152

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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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