Importance of general examination in diagnosis: a rare case report of a family affected with Albright’s hereditary osteodystrophy
Abstract
Albright’s hereditary osteodystrophy (AHO) is rare constellation of signs associated with pseudohypoparathyroidism (PHP) associated with genomic imprinting in GNAS1 gene. We described a case report of a patient with AHO phenotype with pseudopseudohypoparathyroidism (PPHP) with associated chronic liver disease and its complications and her pedigree analysis.
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