手足生殖器綜合症
外觀
Hand-Foot-Genital Syndrome | |
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This condition is inherited in an autosomal dominant manner | |
分類和外部資源 | |
醫學專科 | 醫學遺傳學 |
ICD-9-CM | 759.89 |
OMIM | 140000 |
MedlinePlus | 140000 |
Orphanet | 2438 |
手足生殖器綜合症(英語:Hand-foot-genital syndrome,縮寫HFGS)是一種遺傳突變,會影響發育早期的細胞行為,從而影響手指、腳趾和輸尿管的形狀。[1][2]
參考文獻
[編輯]- ^ 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.