Article
[A clinical and molecular genetic analysis of the fragile X syndrome].
TSitologiia i genetika - 1 Jan 2000
Bychkova A M, Maliarchuk S G, Livshits L A
Abstract excerpt
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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