Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome

Hand-foot-genital syndrome (HFGS) is a rare, dominantly inherited condition affecting the distal limbs and genitourinary tract. A nonsense mutation in the homeobox of HOXA13 has been identified in one affected family, making HFGS the second human syndrome shown to be caused by a HOX gene mutation. W...

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Xehetasun bibliografikoak
Egile Nagusiak: Goodman, Frances R., Bacchelli, Chiara, Brady, Angela F., Brueton, Louise A., Fryns, Jean-Pierre, Mortlock, Douglas P., Innis, Jeffrey W., Holmes, Lewis B., Donnenfeld, Alan E., Feingold, Murray, Beemer, Frits A., Hennekam, Raoul C. M., Scambler, Peter J.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The American Society of Human Genetics 2000
Gaiak:
Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1287077/
https://ncbi.nlm.nih.gov/pubmed/10839976
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