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Short stature due to primary acid-labile subunit deficiency
Acid-labile subunit deficiency is characterized by severely reduced serum insulin-like growth factor I (IGF1; 147440) and IGF-binding protein-3 (IGFBP3; 146732) concentrations that are incongruent with an associated mild growth retardation (height, -2 to -3 SD before and during puberty). Pubertal delay in boys and insulin insensitivity are common findings (summary by Domene et al., 2011). [from OMIM]
Reduced insulin like growth factor binding protein acid labile subunit concentration
An abnormally decreased concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation. [from HPO]
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