- Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome
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Son HW, Lee JE, Oh SH, Keum C, Chung WY
- KMID: 2503364
- Ann Pediatr Endocrinol Metab.
- 2020 Jun;25(2):126-131.
- doi: 10.6065/apem.1938144.072
Floating-Harbor syndrome is a rare autosomal dominant disorder that presents with short stature, facial dysmorphism, significantly delayed bone age, skeletal abnormalities, speech and language problems, and intellectual disabilities. Although short... -
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- The first case of novel variants of the FSHR mutation causing primary amenorrhea in 2 siblings in Korea
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Yoo S, Yoon JY, Keum C, Cheon CK
- KMID: 2540788
- Ann Pediatr Endocrinol Metab.
- 2023 Mar;28(1):54-60.
- doi: 10.6065/apem.2142116.058
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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- Prospective evaluation of the clinical utility of whole-exome sequencing using buccal swabbing for undiagnosed rare diseases
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Cheon CK, Shin YB, Kim SY, Seo GH, Lee H, Keum C, Oh SH
- KMID: 2537689
- J Genet Med.
- 2022 Dec;19(2):76-84.
- doi: 10.5734/JGM.2022.19.2.76
Purpose: Whole-exome sequencing (WES) has been a useful tool for novel gene discovery of various disease categories, further increasing the diagnostic yield. This study aimed to investigate the clinical utility... -
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