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Genotype - phenotype correlation in an adolescent girl with pathogenic PPARy genetic variation that caused severe hypertriglyceridemia and early onset type 2 diabetes
Ana Gutierrez Alvarez, Naomi Yachelevich, Brenda Kohn, Preneet Cheema Brar
Ann Pediatr Endocrinol Metab. 2021;26(4):284-289.   Published online October 14, 2021
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Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation
Hae In Lee, Ahreum Kwon, Jung Hwan Suh, Han Saem Choi, Kyung Chul Song, Hyun Wook Chae, Ho-Seong Kim
Ann Pediatr Endocrinol Metab. 2021;26(1):66-70.   Published online March 31, 2021
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A cell function study on calcium regulation of a novel calcium-sensing receptor mutation (p.Tyr825Phe)
Jung Eun Moon, Hee-Young Yang, Gabbine Wee, Suk-Hyun ParK, Cheol Woo Ko
Ann Pediatr Endocrinol Metab. 2021;26(1):24-30.   Published online July 30, 2020
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Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets
Ha Young Jo, Jung Hyun Shin, Hye Young Kim, Young Mi Kim, Heirim Lee, Mi Hye Bae, Kyung Hee Park, Ja-Hyun Jang, Min Jung Kwak
Ann Pediatr Endocrinol Metab. 2020;25(1):63-67.   Published online March 31, 2020
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First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)
Cha Gon Lee, Ja-Hyun Jang, Ji-Young Seo
Ann Pediatr Endocrinol Metab. 2019;24(4):253-256.   Published online December 31, 2019
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Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene
Seung Heo, Ja-Hyun Jang, Jeesuk Yu
Ann Pediatr Endocrinol Metab. 2019;24(3):199-202.   Published online September 30, 2019
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A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay
Maria-Christina Antoniou, Thérèse Bouthors, Cheng Xu, Franziska Phan-Hug, Eglantine Elowe-Gruau, Sophie Stoppa-Vaucher, Almer van der Sloot, James Acierno, Daniele Cassatella, Celine Richard, Andrew Dwyer, Nelly Pitteloud, Michael Hauschild
Ann Pediatr Endocrinol Metab. 2019;24(1):49-54.   Published online March 31, 2019
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Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene
Won Kyoung Cho, Moon-Bae Ahn, Woori Jang, Hyojin Chae, Myungshin Kim, Byung-Kyu Suh
Ann Pediatr Endocrinol Metab. 2018;23(4):235-239.   Published online December 31, 2018
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A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets
Misun Yang, Jinsup Kim, Aram Yang, Jahyun Jang, Tae Yeon Jeon, Sung Yoon Cho, Dong-Kyu Jin
Ann Pediatr Endocrinol Metab. 2018;23(4):229-234.   Published online December 31, 2018
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Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11
Jong Seo Yoon, Kyu Jung Park, Young Bae Sohn, Hae Sang Lee, Jin Soon Hwang
Ann Pediatr Endocrinol Metab. 2018;23(3):154-157.   Published online September 28, 2018
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De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism
Jung-Eun Moon, Su-Jeong Lee, Suk-Hyun Park, Jinsup Kim, Dong-Kyu Jin, Cheol Woo Ko
Ann Pediatr Endocrinol Metab. 2018;23(2):107-111.   Published online June 20, 2018
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Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders
Maki Fukami, Mami Miyado
Ann Pediatr Endocrinol Metab. 2017;22(2):90-94.   Published online June 28, 2017
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An update on the genetic causes of central precocious puberty
Young-Lim Shin
Ann Pediatr Endocrinol Metab. 2016;21(2):66-69.   Published online June 30, 2016
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Resistance to thyroid hormone due to a novel mutation of thyroid hormone receptor beta gene
Jae Hee Lee, Eun Young Kim
Ann Pediatr Endocrinol Metab. 2014;19(4):229-231.   Published online December 31, 2014
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A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature
Chong Kun Cheon, Hoon Sang Lee, Su Yung Kim, Min Jung Kwak, Gu-Hwan Kim, Han-Wook Yoo
Ann Pediatr Endocrinol Metab. 2014;19(1):36-41.   Published online March 31, 2014
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