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

• Päätekijät: Ye Seung Lee (Tekijä), Hui Kwon Kim (Tekijä), Hye Rim Kim (Tekijä), Jong Yoon Lee (Tekijä), Joong Wan Choi (Tekijä), Eun Ju Bae (Tekijä), Phil Soo Oh (Tekijä), Won Il Park (Tekijä), Chang Seok Ki (Tekijä), Hong Jin Lee (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: Korean Pediatric Society, 2014-05-01T00:00:00Z.
• Aiheet: article
• Linkit: 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...