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Novel heterozygous mutation in the SHOX gene leading to familial idiopathic short stature: A case report and literature review.
Liu L, Li J, Li J, Hu H, Liu J, Tang P. Liu L, et al. Medicine (Baltimore). 2023 Oct 13;102(41):e35471. doi: 10.1097/MD.0000000000035471. Medicine (Baltimore). 2023. PMID: 37832088 Free PMC article. Review.
The SHOX: c.577G > A mutation is likely to be the genetic etiology of familial idiopathic short stature in this family, and this novel mutation enriches the mutation spectrum of the SHOX gene. ...It is important to emphasize genetic testing, includi …
The SHOX: c.577G > A mutation is likely to be the genetic etiology of familial idiopathic short stature in th …
Short children with familial short stature show enhancement of somatotroph secretion but normal IGF-I levels.
Bellone S, Corneli G, Bellone J, Baffoni C, Rovere S, de Sanctis C, Bona G, Ghigo E, Aimaretti G. Bellone S, et al. J Endocrinol Invest. 2002 May;25(5):426-30. doi: 10.1007/BF03344032. J Endocrinol Invest. 2002. PMID: 12035938
The aim of the present study was to evaluate the GH status in children with familial, idiopathic short stature (FSS). To this goal we evaluated the GH response to GHRH (1 microg/kg iv) + arginine (ARG) (0.5 g/kg iv) test which is one of the most potent …
The aim of the present study was to evaluate the GH status in children with familial, idiopathic short stature ( …