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The expanding panorama of split hand foot malformation
Author(s) -
Basel Donald,
Kilpatrick Michael W.,
Tsipouras Petros
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31304
Subject(s) - phenotype , genetic heterogeneity , biology , panorama , anatomy , venous malformation , genetics , medicine , surgery , gene , computer science , computer vision
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. © 2006 Wiley‐Liss, Inc.