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A clinical and molecular genetic analysis of the fragile X syndrome

Bychkova A.M., Maliarchuk S.G., Livshits L.A.

 




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.

Tsitologiya i Genetika 1999, vol. 33, no. 4, pp. 70-76



Bychkova A.M., Maliarchuk S.G., Livshits L.A. A clinical and molecular genetic analysis of the fragile X syndrome, Tsitol Genet., 1999, vol. 33, no. 4, pp. 70-76.




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