Characterisation of novel missense mutations in the GH receptor gene causing severe growth retardation.
Article Details
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Enberg B, Luthman H, Segnestam K, Ritzen EM, Sundstrom M, Norstedt G
Characterisation of novel missense mutations in the GH receptor gene causing severe growth retardation.
Eur J Endocrinol. 2000 Jul;143(1):71-6.
- PubMed ID
- 10870033 [ View in PubMed]
- Abstract
Two Swedish brothers, 2.5 and 4 years of age, were found to fulfil all the clinical and laboratory characteristics of Laron's syndrome. They were shown to have unique missense mutations in the GH receptor gene. Both of their parents were of normal height, but they both separately carried one of the identified gene alterations. A molecular model of the first receptor alteration suggests that a collapse in three-dimensional receptor structure most likely contributed to the GH insensitivity in these patients.