Very rare autosomal recessive growth hormone insensitivity syndrome with immune dysregulation-1 (GHISID1), is a congenital disorder characterized by short stature due to insensitivity to growth hormone (GH1; 139250).
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive D81.4
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LiteratureThis section has been translated automatically.
- Bernasconi A et al.(2006) Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation. Pediatrics 118: e1584.
- Kofoed EM et al (2003) Growth hormone insensitivity associated with a STAT5b mutation. New Eng J Med 349: 1139-1147.
- Vidarsdottir S et al (2006) Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation. J Clin Endocr Metab 91: 3482-3485.