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Низькорослість, зумовлена частковим дефіцитом GHR

ORPHA:314802· ICD-10 E34.3· Short stature due to partial GHR deficiency

Визначення(English summary)

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.

Поширеність
Unknown
Успадкування
Unknown
Вік початку
Childhood