Hand-Foot-Genital Syndrome

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Xu, C. Hand-Foot-Genital Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4067 (accessed on 23 September 2026).

Xu C. Hand-Foot-Genital Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4067. Accessed September 23, 2026.

Xu, Camila. "Hand-Foot-Genital Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4067 (accessed September 23, 2026).

Xu, C. (2020, December 23). Hand-Foot-Genital Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4067

Xu, Camila. "Hand-Foot-Genital Syndrome." Encyclopedia. Web. 23 December, 2020.

Hand-Foot-Genital Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/hand-foot-genital-syndrome

Hand-foot-genital syndrome is a rare condition that affects the development of the hands and feet, the urinary tract, and the reproductive system.

genetic conditions

References

Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, InnisJW, 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 Jul;67(1):197-202.
Goodman FR, Scambler PJ. Human HOX gene mutations. Clin Genet. 2001Jan;59(1):1-11. Review.
Goodman FR. Limb malformations and the human HOX genes. Am J Med Genet. 2002Oct 15;112(3):256-65. Review.
Innis JW, Mortlock D, Chen Z, Ludwig M, Williams ME, Williams TM, Doyle CD,Shao Z, Glynn M, Mikulic D, Lehmann K, Mundlos S, Utsch B. Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model. Hum Mol Genet. 2004 Nov 15;13(22):2841-51.
Innis JW. Hand-Foot-Genital Syndrome. 2006 Jul 11 [updated 2019 Aug 8]. In:Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A,editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1423/
Mortlock DP, Innis JW. Mutation of HOXA13 in hand-foot-genital syndrome. NatGenet. 1997 Feb;15(2):179-80.
Utsch B, McCabe CD, Galbraith K, Gonzalez R, Born M, Dötsch J, Ludwig M,Reutter H, Innis JW. Molecular characterization of HOXA13 polyalanine expansionproteins in hand-foot-genital syndrome. Am J Med Genet A. 2007 Dec15;143A(24):3161-8.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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