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Commentary on "Deciphering the mystery of CHNG3"

Cheon CK

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Considerations for evaluating the effectiveness and long-term outcome of enzyme replacement therapy in Pompe disease

Cheon CK

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Commentary on "Effects of gonadotropin-releasing hormone agonist treatment on final adult height in boys with idiopathic central precocious puberty"

Cheon CK

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Commentary on "Glycemic control and complications of type 2 diabetes mellitus in children and adolescents during the COVID-19 outbreak"

Cheon CK

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Identification of a novel mutation of the SHOX gene in a patient with Leri-Weill dyschondrosteosis accompanied by growth hormone deficiency

Kang J, Kim MJ, Yoo S, Cheon CK

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The first case of hyperosmolar diabetic ketoacidosis in a patient diagnosed with MODY 5 (maturity-onset diabetes of the young type 5) and 17q12 microdeletion syndrome

Lee J, Kim M, Yoo S, Yoon JY, Cheon CK

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Association of Obesity or Overweight with Bone Health in Childhood and Adolescence: Another Health Risk Never to Be Underestimated

Cheon CK

No abstract available.
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Pediatric management challenges of hyperglycemic hyperosmolar state: case series of Korean adolescents with type 2 diabetes

Lee S, Yoo S, Yoon JY, Cheon CK, Kim YA

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Adult Phenylketonuria with Leukoencephalopathy

Kim M, Woo K, Cheon CK, Jung NY, Lee JH

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A novel compound heterozygous variant of the COL11A1 gene in a patient with fibrochondrogenesis type I: the first case in Korea

Jeon J, Kim M, Yoo S, Kim Y, Cheon CK

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

Jo KJ, Park SE, Cheon CK, Oh SH, Kim SH

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A Korean child with DICER1 syndrome presenting with thyroid manifestations accompanied by other types of neoplasms: a case report and literature review

Kim M, Lee J, Yoo S, Song JY, Yang EJ, Kim SH, Cheon CK, Yoon JY

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Evaluation and management of amenorrhea related to congenital sex hormonal disorders

Yoon JY, Cheon CK

Primary amenorrhea is a symptom with a substantial list of underlying etiologies which presents in adolescence, although some conditions are diagnosed in childhood. Primary amenorrhea is defined as not having...
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A Case of Apert Syndrome with a P253R Mutation on FGFR2 Exon VIII

Lee YJ, Ko JM, Park SS, Cheon CK

  • KMID: 2184481
  • J Genet Med.
  • 2010 Dec;7(2):151-155.
Apert syndrome is a rare congenital anomaly characterized by craniofacial malformations and severe symmetrical syndactyly of fingers and toes. This syndrome is caused by a genetic mutation; the S253 mutation...
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Understanding of type 1 diabetes mellitus: what we know and where we go

Cheon CK

The incidence of type 1 diabetes mellitus (T1DM) in children and adolescents is increasing worldwide. Combined effects of genetic and environmental factors cause T1DM, which make it difficult to predict...
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A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion

Kang JE, Park MY, Cheon CK, Lee HD, Hwang SH, Yi J

Here we report the cytogenetic and clinical manifestations observed in a patient with a rec(20)dup(20p)inv(20)(p11.2q13.3)mat. The patient was a full-term newborn girl with asymmetric intrauterine growth restriction and multiple congenital...
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A Case of Mycoplasma pneumoniae Pneumonia with a Fulminant Course in a Previously Healthy Boy

Kim TH, Song YH, Kim MJ, Yu J, Cheon CK, Jin HS, Park SJ, Hong SJ

  • KMID: 2314947
  • Pediatr Allergy Respir Dis.
  • 2009 Jun;19(2):191-198.
Mycoplasma pneumoniae is a common cause of community-acquired respiratory infection in children. Through uncertain pathologic mechanisms, which most probably involve immunologically cell-mediated tissue damage, it causes life-threatening disease on rare...
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14q32.33 Deletion Identified by array-CGH in a 5-year old-girl with Seizure

Cheon CK, Park SJ, Choi OH

Deletions of 14q including band 14q32.33 are uncommon. Patients with terminal deletions of chromosome 14 usually share a number of clinical features. By molecular techniques (array comparative genomic hybridization (CGH)...
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The first case of novel variants of the FSHR mutation causing primary amenorrhea in 2 siblings in Korea

Yoo S, Yoon JY, Keum C, Cheon CK

Follicle-stimulating hormone receptor (FSHR) mutation is a rare cause of amenorrhea. We report the first case of FSHR mutations in Korea. Two female siblings, aged 16 (patient 1) and 19...
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Kabuki syndrome: clinical and molecular characteristics

Cheon CK, Ko JM

Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies,...
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