A novel GNAS mutation in pseudohypoparathyroidism type 1a with articular flexion deformity: A case report

Pseudohypoparathyroidism (PHP) type 1a (PHP 1a) is a rare hereditary disorder characterized by target organ resistance to hormonal signaling and the Albright hereditary osteodystrophy (AHO) phenotype, which features round facial features, short fingers, subcutaneous calcifications, short stature, ob...

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Principais autores:	Wan Jinxing, He Dongjuan, Xie Jun, Chen Zhizhi
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	De Gruyter 2024-07-01
סדרה:	Open Life Sciences
נושאים:	poh overlap syndrome congenital hypothyroidism inheritance gnas mutation pseudohypoparathyroidism albright hereditary osteodystrophy deformity
גישה מקוונת:	https://doi.org/10.1515/biol-2022-0918
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!