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Bychkova A.M., Maliarchuk S.G., Livshits L.A.
A clinical and molecular genetic analysis of the fragile X syndrome
Cytology and Genetics 1999, v 33, number 4, 70-76
Results of phenotypical, patho-psychological and molecular-genetic analysis of the 53 probands with clinical features of the fragile X syndrome and 10 female carriers are presented. The clinical heterogeneity, diagnostic criteria, methods of genetic risk estimation, perspectives of prevention of this disease are discussed.
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