The expanding panorama of split hand foot malformation
- PMID: 16763964
- DOI: 10.1002/ajmg.a.31304
The expanding panorama of split hand foot malformation
Abstract
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.
(c) 2006 Wiley-Liss, Inc.
Comment in
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Split hand foot malformation with whorl-like pigmentary pattern: phenotypic expression of somatic mosaicism for the p63 mutation.Am J Med Genet A. 2008 Oct 1;146A(19):2574-7. doi: 10.1002/ajmg.a.32415. Am J Med Genet A. 2008. PMID: 18792980 No abstract available.
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