手足生殖器综合征
外观
(重定向自HFGS)
Hand-Foot-Genital Syndrome | |
---|---|
This condition is inherited in an autosomal dominant manner | |
分类和外部资源 | |
醫學專科 | 醫學遺傳學 |
ICD-9-CM | 759.89 |
OMIM | 140000 |
MedlinePlus | 140000 |
Orphanet | 2438 |
手足生殖器综合征(英語:Hand-foot-genital syndrome,缩写HFGS)是一种遗传突变,会影响发育早期的细胞行为,从而影响手指、腳趾和输尿管的形状。[1][2]
参考文献
[编辑]- ^ Innis, Jeffrey W; Pagon, RA; Bird, TD; Dolan, CR; Stephens, K. Hand-Foot-Genital Syndrome. GeneReviews. 2006. PMID 20301596.
- ^ Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ. Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. Am J Hum Genet. 2000, 67 (1): 192–202. PMC 1287077 . PMID 10839976. doi:10.1086/302961.