Pseudopseudohypoparathyroidism
A condition caused by inactivating mutation(s) in the paternal allele of the GNAS gene, encoding Gs-alpha, resulting in expression of the Gs-alpha protein from only the maternal allele. Affected individuals have the clinical phenotype of Albright hereditary osteodystrophy without hormone resistance.
Disease Alternative Name
albright hereditary osteodystrophy without multiple hormone resistance
albright hereditary osteodystrophy with multiple hormone resistance
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