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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Analysis of the human growth hormone receptor and IGF-I coding sequences in children with growth disorders.

Analysis of GHR and IGF-I coding sequences in 47 children with normal serum levels of GH, low IGF-I and growth disorders generally did not show mutation in the genes studied. Only one boy had a mutation located in the fifth exon of the GHR gene (C-->T in codon 88). This suggests that the growth disorders in this group of children might be due to a defect in a DNA region regulating expression of the GHR and IGF1 genes or genes involved in their regulation.[1]

References

  1. Analysis of the human growth hormone receptor and IGF-I coding sequences in children with growth disorders. Obrepalska-Steplowska, A., Kedzia, A., Goździcka-Józefiak, A., Jakubowicz, M., Korman, E. Journal of pediatric endocrinology & metabolism : JPEM. (2003) [Pubmed]
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