- A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia
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Son YY, Lee B, Suh CR, Nam HK, Lee JH, Hong YS, Lee JW
- KMID: 2055591
- J Genet Med.
- 2015 Jun;12(1):57-60.
- doi: 10.5734/JGM.2015.12.1.57
CHARGE syndrome (coloboma, heart defects, atresia choanae, retarded growth and development, genital hypoplasia, and ear abnormalities) is characterized by multiple malformations and is diagnosed using distinct consensus criteria. Mutations in... -
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- A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
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Lee MJ, Suh CR, Shin JH, Lee JH, Lee Y, Eun BL, Yoo KH, Shim JO
- KMID: 2462099
- Pediatr Gastroenterol Hepatol Nutr.
- 2019 Nov;22(6):581-587.
- doi: 10.5223/pghn.2019.22.6.581
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystemic disease that is associated with the liver, kidney, skin, and central nervous and musculoskeletal systems. ARC occurs as a result... -
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- Single-center experience of the Korean-Developmental Screening Test for infants and children
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Suh CR, Sohn SY, Kim GH, Jung SK, Eun BL
- KMID: 2367407
- Korean J Pediatr.
- 2016 Dec;59(12):483-489.
- doi: 10.3345/kjp.2016.59.12.483
PURPOSE: We investigated the number of test takers of the Korean-Developmental Screening Test (K-DST) in a single children's hospital within a year, according to age, referral rate, and follow-up percentage. METHODS:... -
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