The expanding panorama of split hand foot malformation. Am J Med Genet A 2006 Jul 01;140(13):1359-65
Date
06/10/2006Pubmed ID
16763964DOI
10.1002/ajmg.a.31304Scopus ID
2-s2.0-33745615451 (requires institutional sign-in at Scopus site) 30 CitationsAbstract
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 PAuthor
Donald Basel MD Chief, Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Abnormalities, MultipleFoot Deformities, Congenital
Genetic Heterogeneity
Hand Deformities, Congenital
Humans
Phenotype