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• W2034136228 startingPage "764" @default.
• W2034136228 abstract "The fragile X syndrome, which often presents in childhood with overgrowth, may in some cases show some diagnostic overlap with classical Sotos syndrome. We describe four fragile X patients with general overgrowth, all of whom are from families with other affected relatives who show the classic Martin-Bell phenotype. Molecular studies of the FMR1 gene in all cases showed the typical full mutation as seen in males affected by the fragile X syndrome. Endocrine studies were unremarkable, except in one case where there were raised levels of insulin-like growth factor-I (IGF-I) and insulin-like growth factor binding protein-3 (IGFBP-3) These cases illustrate the clinical variability of the fragile X syndrome and the necessity of performing analysis of the FMR1 gene in mentally retarded patients presenting with general overgrowth." @default.
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• W2034136228 date "1995-10-01" @default.
• W2034136228 modified "2023-09-26" @default.
• W2034136228 title "General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation" @default.
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• W2034136228 doi "https://doi.org/10.1136/jmg.32.10.764" @default.
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