Prenatal diagnosis of sporadic neurofibr
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Elisabet Ars; Helena Kruyer; Antonia Gaona; Eduard Serra; Conxi LΓ‘zaro; Xavier E
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Article
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1999
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John Wiley and Sons
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English
β 180 KB
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Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders in humans with an incidence of 1 in 3500. Most of the NF1 mutations reported so far (over 240 mutations) are unique. Specific prenatal diagnosis can only be provided to familial cases by an indirect linkage analysis or to fam