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NTIS 바로가기대한유전성대사질환학회지 = Journal of the Korean Society of Inherited Metabolic Disease, v.20 no.2, 2020년, pp.44 - 49
유병민 (한림대학교 의과대학 소아청소년과) , 김미진 (한림대학교 의과대학 소아청소년과) , 고정민 (서울대학교 의과대학 소아청소년과) , 강민재 (한림대학교 의과대학 소아청소년과)
Pseudohypoparathyroidism (PHP) is a disorder characterized by hypocalcemia and hyperphosphatemia due to end organ resistance to parathyroid hormone. PHP is caused by the deficiency of the α-subunit of the stimulatory G protein encoded by the GNAS gene, and this defect arises from genetic or imp...
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Fernandez-Rebollo E, Lecumberri B, Gaztambide S, Martinez-Indart L, Perez de Nanclares G, Castano L, et al. Endocrine Profile and Phenotype(Epi)Genotype Correlation in Spanish Patients with Pseudohypoparathyroidism. J Clin Endocrinol Metab 2013;98:E996-E1006.
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