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Article

Triphalangeal thumb in association with split hand/foot: a phenotypic marker for SHFM3?

Birth defects research. Part A, Clinical and molecular teratology - 1 Jan 2007

Elliott Alison M, Reed Martin H, Evans Jane A

Abstract excerpt

BACKGROUND: At least five distinct loci have been implicated in split hand foot malformation (SHFM). Establishing genotype/phenotype correlations at the chromosomal level may elucidate responsible developmental genes and improve patient management. In our analysis of previously published genetically mapped SHFM cases, preaxial hand involvement was a significant discriminating variable, most commonly seen at the...

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PMID: 17120235
DOI: 10.1002/bdra.20317

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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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