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Federación Mexicana de Ginecología y Obstetricia, A.C.

2013, Number 04

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Ginecol Obstet Mex 2013; 81 (04)

Prenatal exclusion of von Hippel-Lindau syndrome in a Mexican family carrying a novel VHL gene mutation

Chacón-Camacho OF, Benítez-Granados J, Zenteno JC

Language: Spanish
References: 18
Page: 206-210
PDF size: 274.86 Kb.


ABSTRACT

Von Hippel-Lindau syndrome is an autosomal dominant and familial multisystemic syndrome that is caused by the inactivation of the VHL gene and it is characterized by diverse types of high vasculated tumors of benign and malign nature. This paper reports the clinical characteristics and prenatal diagnosis of a woman with von Hippel-Lindau syndrome, who constitutes the first exclusion prenatal case by DNA analysis of the Von Hippel-Lindau syndrome in Latin-American population.


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