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

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

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...

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Bibliographic Details
Main Authors: Ye Seung Lee, Hui Kwon Kim, Hye Rim Kim, Jong Yoon Lee, Joong Wan Choi, Eun Ju Bae, Phil Soo Oh, Won Il Park, Chang Seok Ki, Hong Jin Lee
Format: Article
Language:English
Published: Korean Pediatric Society 2014-05-01
Series:Korean Journal of Pediatrics
Subjects:
Pseudohypoparathyroidism
Pseudohypoparathyroidism Type 1a
GNAS gene
Albright's hereditary osteodystrophy
Online Access:http://kjp.or.kr/upload/pdf/kjped-57-240.pdf

Internet

http://kjp.or.kr/upload/pdf/kjped-57-240.pdf

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