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Rheumatology

Haploinsufficiency A20 misdiagnosed as PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis) syndrome with Kikuchi disease

Kyo Jin Jo, Su Eun Park, Chong Kun Cheon, Seung Hwan Oh, Seong Heon Kim

Clin Exp Pediatr. 2023;66(2):82-84. Published online June 22, 2022

Web of Science 3 Crossref 5

DOI: https://doi.org/10.3345/cep.2022.00500

Original Article

Endocrinology

Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome

Kyo Jin Jo, Yoo Mi Kim, Ju Young Yoon, Yeoun Joo Lee, Young Mi Han, Han-Wook Yoo, Hyang-Sook Kim, Chong Kun Cheon

Clin Exp Pediatr. 2019;62(7):274-280. Published online December 3, 2018

Crossref 12

Purpose: To analyze the growth response to growth hormone (GH) therapy in prepubertal patients with Noonan syndrome (NS) harboring different genetic mutations. Methods: Twenty-three patients with prepubertal NS treated at Pusan National University Children’s Hospital between March 2009 and July 2017 were enrolled. According to the disease-causing genes identified, the patients with NS were divided into 4 groups. Three groups were...

DOI: https://doi.org/10.3345/kjp.2018.06842

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