Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The insensitivity of the insulin-like growth factor receptor is caused by loss-of-funtion mutations of the IGF1R gene. The pattern of inheritance is variable. Depending on the type of mutation, it may be autosomal dominant or recessive.
Labtests show rather elevated EGF1 levels and a normal response to growth hormone stimulation.
| 1. |
Abuzzahab MJ et al. (2003) IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. 
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| 2. |
Momoi T et al. (1992) Short stature with normal growth hormone and elevated IGF-I.
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| 3. |
Tollefsen SE et al. (1991) Endogenous insulin-like growth factor (IGF) binding proteins cause IGF-1 resistance in cultured fibroblasts from a patient with short stature.
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| 4. |
Bierich JR et al. (1984) Pseudopituitary dwarfism due to resistance to somatomedin: a new syndrome.
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| 5. |
Kaplowitz PB et al. (1984) Stimulation by somatomedin-C of aminoisobutyric acid uptake in human fibroblasts: a possible test for cellular responsiveness to somatomedin.
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| 6. |
Lanes R et al. (1980) Dwarfism associated with normal serum growth hormone and increased bioassayable, receptorassayable, and immunoassayable somatomedin.
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| 7. |
Hattori Y et al. (1996) Decreased insulin-like growth factor I receptor expression and function in immortalized African Pygmy T cells.
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| 8. |
OMIM.ORG article Omim 270450
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