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

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

Clin Exp Pediatr. 2014;57(5):240-244. Published online May 31, 2014

Crossref 3

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-old boy presented with clinical and laboratory abnormalities including hypocalcemia, hyperphosphatemia, PTH resistance, multihormone resistance and AHO (round face, short stature, obesity, brachydactyly...

DOI: https://doi.org/10.3345/kjp.2014.57.5.240

A Case of Rett Syndrome with MECP2 Gene Mutation

Jin Kyung Kim, Chang Seok Ki, Jong Won Kim

Clin Exp Pediatr. 2002;45(4):540-544. Published online April 15, 2002

Rett syndrome is an X-linked dominant, progressive neurodevelopmental disorder, with a prevalence estimated to be one in 10,000-15,000 girls, which is thought to be the second most common genetic causes of mental retardation in females after Down syndrome. Patients with classic Rett syndrome show an apparently normal neonatal period, followed by developmental regression and deceleration of head growth, accompanied by...

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