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The expanding panorama of split hand foot malformation. Am J Med Genet A 2006 Jul 01;140(13):1359-65 PMID: 16763964

Pubmed ID



The split hand/foot malformation is a developmental defect of the extremities resulting from errors in the initiation and maintenance of the apical ectodermal ridge. The phenotype is genetically heterogeneous, and it can be identified either as an isolated phenotypic manifestation or as a constituent component of a malformation syndrome. This overview describes the clinical phenotype, related animal models, and the evolving genetic heterogeneity of the malformation.

Author List

Basel D, Kilpatrick MW, Tsipouras P


Donald Basel MD Chief, Associate Professor in the Pediatrics department at Medical College of Wisconsin


2-s2.0-33745615451   27 Citations

MESH terms used to index this publication - Major topics in bold

Abnormalities, Multiple
Foot Deformities, Congenital
Genetic Heterogeneity
Hand Deformities, Congenital
jenkins-FCD Prod-299 9ef562391eceb2b8f95265c767fbba1ce5a52fd6