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Correspondence
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Volume 350:1362-1363 March 25, 2004 Number 13
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IGF-I Receptor Mutations and Intrauterine and Postnatal Growth Retardation

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 by Abuzzahab, M. J.
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To the Editor: Abuzzahab et al. (Dec. 4 issue)1 describe two children with sequence changes in the gene encoding the insulin-like growth factor I (IGF-I) receptor and conclude that these mutations caused their growth retardation. One child had two missense mutations, and only 43 controls were evaluated (half the number generally accepted). The second child had a single nonsense mutation, and no data from controls are reported. Apparently, the assumption is that a nonsense mutation must be pathogenic. Although data from mice are not necessarily equivalent to data from humans, heterozygous IGF-I receptor knockout mice do not exhibit growth retardation.2 . . . [Full Text of this Article]


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