Short stature due to partial GHR deficiency

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Synonyms: Short stature due to partial growth hormone receptor deficiency

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version May 2024

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Clinical Trials

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