Article
Clinical and functional characteristics of the human Arg59Ter insulin-like growth factor i receptor (IGF1R) mutation: implications for a gene dosage effect of the human IGF1R.
The Journal of clinical endocrinology and metabolism - 1 Jun 2006
Raile K, Klammt J, Schneider A, Keller A, Laue S, Smith R, Pfäffle R, Kratzsch J, Keller E, Kiess W
Abstract excerpt
CONTEXT: Signaling via the IGF-I receptor (IGF-IR) is crucial for normal prenatal and postnatal growth. The heterozygous IGF-IR mutation Arg59Ter resulted in reduced IGF-IR expression and represents haploinsufficiency of the human IGF1R gene. OBJECTIVE: We studied clinical and in vitro aspects of a human IGF1R gene dosage effect. We provide detailed clinical data on the two half-brothers and their mother with the...
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