Results 221 to 230 of about 236,029 (259)

Identification and functional analysis of NPR2 truncating mutations in two Chinese families with short stature. [PDF]

open access: yesBMC Pediatr
Wei S   +9 more
europepmc   +1 more source

Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I.

open access: yesJ Clin Endocrinol Metab
Punt LD   +28 more
europepmc   +1 more source
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Short stature homeoboxcontaining gene and idiopathic short stature

Expert Review of Endocrinology & Metabolism, 2009
The term idiopathic short stature (ISS) refers to patients who are short due to various unknown reasons. Although it is clear that multiple factors contribute to final height, genetic factors play a crucial role. Mutations of a human homeobox gene, short stature homeobox-containing (SHOX) gene, have been shown to be associated with the short stature ...
IUGHETTI, Lorenzo   +6 more
openaire   +4 more sources

Idiopathic Short Stature

Journal of Pediatric Endocrinology and Metabolism, 2001
Abstract Idiopathic short stature (ISS) is a term used to describe the status of children with short stature that cannot be attributed to a specific cause. Many children diagnosed as having ISS have partial GH insensitivity, which can result from disturbances at various points of the GH-IGF-I axis.
PASQUINO AM   +10 more
openaire   +3 more sources

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