Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia

• 主要な著者: Ye Seung Lee (著者), Hui Kwon Kim (著者), Hye Rim Kim (著者), Jong Yoon Lee (著者), Joong Wan Choi (著者), Eun Ju Bae (著者), Phil Soo Oh (著者), Won Il Park (著者), Chang Seok Ki (著者), Hong Jin Lee (著者)
• フォーマット: 図書
• 出版事項: Korean Pediatric Society, 2014-05-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations within the Gs alpha-encoding GNAS exons. A 9-year-ol...