Short stature due to partial GHR deficiency
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Sign InDescription
Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.
Mode of Inheritance
- Autosomal dominant inheritance
- Autosomal recessive inheritance
VARIANTS
14