The expanding panorama of split hand foot malformation

被引：24
|
作者：
Basel, Donald [1 ]
Kilpatrick, Michael W. [1 ]
Tsipouras, Petros [1 ]
机构：
[1] Univ Connecticut, Ctr Hlth, Dept Genet & Dev Biol, Farmington, CT 06030 USA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2006年 / 140A卷 / 13期
关键词：
split hand foot malformation; SHFM;
D O I：
10.1002/ajmg.a.31304
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
引用
收藏
页码：1359 / 1365
页数：7
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