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• W2077470841 abstract "We describe 8 patients affected with Costello syndrome including an affected sib pair and review the literature on 29 previously reported cases. We emphasize an association with advanced parental age, which is consistent with autosomal dominant inheritance with germline mosaicism. The pathogenesis appears to involve metabolic dysfunction, with growth disturbance, storage disorder appearance, acanthosis nigricans, hypertrophic cardiomyopathy, and occasional abnormalities of glucose metabolism. Although the cause is currently unknown, Costello syndrome is interesting because of a potential genetic-metabolic etiology. (J Pediatr 1998;133:441-8)" @default.
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• W2077470841 date "1998-09-01" @default.
• W2077470841 modified "2023-10-07" @default.
• W2077470841 title "Costello syndrome: Phenotype, natural history, differential diagnosis, and possible cause" @default.
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• W2077470841 doi "https://doi.org/10.1016/s0022-3476(98)70284-7" @default.
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