- A case of mild CADASIL patient with a novel heterozygous NOTCH3 variant
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Choi W, Hwang YH, Lee JM
- KMID: 2531194
- J Genet Med.
- 2022 Jun;19(1):38-41.
- doi: 10.5734/JGM.2022.19.1.38
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disease caused by mutations in the neurogenic locus notch homolog protein 3 (NOTCH3) gene. The spectrum of... -
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- From diagnosis to treatment of mucopolysaccharidosis type VI: A case report with a novel variant, c.1157C>T (p.Ser386Phe), in ARSB gene
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Yoo S, Lee J, Kim M, Yoon JY, Cheon CK
- KMID: 2531193
- J Genet Med.
- 2022 Jun;19(1):32-37.
- doi: 10.5734/JGM.2022.19.1.32
Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal disorder caused by the deficiency of arylsulfatase B due to mutations in the ARSB gene. Here, we report the case... -
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- A novel variant of PHEX in a Korean family with X-linked hypophosphatemic rickets
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Kim S, Kim S, Kim N
- KMID: 2531192
- J Genet Med.
- 2022 Jun;19(1):27-31.
- doi: 10.5734/JGM.2022.19.1.27
X-linked dominant hypophosphatemic rickets are the most common form of familial hypophosphatemic rickets resulting from hypophosphatemia caused by renal phosphate wasting, which in turn is a result of loss-of-function mutations... -
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- Cerebrotendinous xanthomatosis in a 10-year-old male presenting with Achilles tendon xanthoma and mild intellectual disability: A case report
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Yoon JH, Kim KY, Lee SY, Kim SY, Lee YA, Ki CS, Song J, Shin CH, Lee YJ
- KMID: 2531191
- J Genet Med.
- 2022 Jun;19(1):22-26.
- doi: 10.5734/JGM.2022.19.1.22
Cerebrotendinous xanthomatosis (CTX) is a rare genetic disease caused by a deficiency of enzymes for the synthesis of bile acid, resulting in the accumulation of cholestanol with reduced chenodeoxycholic acid... -
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- Identification of unbalanced complex chromosomal rearrangements in IVF-derived embryos during NGS analysis of preimplantation genetic testing: A case report
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Yu EJ, Kim MJ, Park EA, Hong YS, Park SO, Park SH, Lee YB, Yoon TK, Kang IS
- KMID: 2531190
- J Genet Med.
- 2022 Jun;19(1):14-21.
- doi: 10.5734/JGM.2022.19.1.14
Complex chromosome rearrangements (CCRs) are structural chromosomal rearrangements involving at least three chromosomes and more than two breakpoints. CCR carriers are generally phenotypically normal but related to higher risk of... -
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- Clinical application of genome-wide single nucleotide polymorphism genotyping and karyomapping for preimplantation genetic testing of Charcot–Marie–Tooth disease
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Kim MJ, Park SO, Hong YS, Park EA, Lee YB, Choi BO, Lee KA, Yu EJ, Kang IS
- KMID: 2531189
- J Genet Med.
- 2022 Jun;19(1):7-13.
- doi: 10.5734/JGM.2022.19.1.7
Purpose: Preimplantation genetic testing for monogenic disorders (PGT-M) has been successfully used to prevent couples with monogenic disorders from passing them on to their child. Charcot–Marie–Tooth Disease (CMT) is a... -
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- Genetic variations affecting response of radiotherapy
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Choi EK
- KMID: 2531188
- J Genet Med.
- 2022 Jun;19(1):1-6.
- doi: 10.5734/JGM.2022.19.1.1
Radiation therapy (RT) is a very important treatment for cancer that irradiates a large amount of radiation to lead cancer cells and tissues to death. The progression of RT in... -
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