- The rare case of 46,XX testicular disorder of sex development carrying a heterozygous p.Arg92Trp variant in NR5A1
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Kim L, Kim HY, Ko JM
- KMID: 2537695
- J Genet Med.
- 2022 Dec;19(2):115-119.
- doi: 10.5734/JGM.2022.19.2.115
The 46,XX testicular disorder of sex development (DSD) is a rare condition in which 46,XX individuals develop testicular differentiation and virilization. Translocation of the sex-determining region Y (SRY ) onto... -
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- Variant of CHD1 gene resulting in a Korean case of Pilarowski-Bjornsson syndrome
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Sunwoo Y, Seo SH, Kim HJ, Park MS, Cho A
- KMID: 2537694
- J Genet Med.
- 2022 Dec;19(2):111-114.
- doi: 10.5734/JGM.2022.19.2.111
Many monogenic neurodevelopmental disorders have been newly identified in recent years owing to the rapid development of genetic sequencing technology. These include variants of the epigenetic machinery – up to... -
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- The first Korean case of 2p15p16.1 microdeletion syndrome, characterized by facial dysmorphism, developmental delay, and congenital hypothyroidism
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Cho JY, Lee TK, Kim YM, Lim HH
- KMID: 2537693
- J Genet Med.
- 2022 Dec;19(2):105-110.
- doi: 10.5734/JGM.2022.19.2.105
The microdeletion syndrome of chromosome 2p15p16.1 (MIM: 612513) is an extremely rare contiguous gene deletion syndrome. Microdeletions of varying sizes in the 2p15-16.1 region are associated with developmental delay, intellectual... -
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- SLC9A6 -related developmental and epileptic encephalopathy with spike-and-wave activation in sleep: A case report
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Bae HR, Kim YO
- KMID: 2537692
- J Genet Med.
- 2022 Dec;19(2):100-104.
- doi: 10.5734/JGM.2022.19.2.100
The gene encoding solute carrier family 9 member 6 (SLC9A6) on Xq26.3 is associated with Christianson syndrome (CS) mimicking Angelman syndrome. In CS, developmental and epileptic encephalopathy (DEE) appears in... -
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- Co-occurrence of both maternally inherited neurofibromatosis type 1 and Lesch-Nyhan disease in a child with severe neurodevelopmental impairment
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Yun JH, Hong YH, Seo GH, Shin YL
- KMID: 2537691
- J Genet Med.
- 2022 Dec;19(2):94-99.
- doi: 10.5734/JGM.2022.19.2.94
Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited purine metabolic disorder that accompanies neurodevelopmental problems. Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant inherited genetic disorder characterized... -
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- Clinical and molecular characteristics of Korean children with Cornelia de Lange syndrome
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Kang D, Kim HY, Chae JH, Ko JM
- KMID: 2537690
- J Genet Med.
- 2022 Dec;19(2):85-93.
- doi: 10.5734/JGM.2022.19.2.85
Purpose: Cornelia de Lange syndrome (CdLS) is a rare genetically heterogeneous disorder caused by genetic variants of the cohesin complex. However, the diverse genetic etiologies and their phenotypic correlations in... -
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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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- Identification of novel susceptibility genes associated with bone density and osteoporosis in Korean women
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Kim BY, Kim DW, Park E, Kim J, Lee CG, Jin HS, Jeong SY
- KMID: 2537688
- J Genet Med.
- 2022 Dec;19(2):63-75.
- doi: 10.5734/JGM.2022.19.2.63
Purpose: Osteoporosis is a common calcium and metabolic skeletal disease which is characterized by decreased bone mass, microarchitectural deterioration of bone tissue and impaired bone strength, thereby leading to enhanced... -
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- Genetic diagnosis of systemic autoinflammatory diseases and underlying primary immunodeficiency
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Oh SH
- KMID: 2537687
- J Genet Med.
- 2022 Dec;19(2):57-62.
- doi: 10.5734/JGM.2022.19.2.57
Systemic autoinflammatory diseases (SAIDs) are characterized by unprovoked inflammatory episodes such as recurrent/periodic fever, serositis, skin lesions, abdominal symptoms, arthritis/arthralgia, and central nervous system involvement. Genetic diagnosis of SAIDs has... -
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- Mitophagy stimulation as a novel strategy for the treatment of mitochondrial diseases
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Lee KM, Yun J
- KMID: 2537686
- J Genet Med.
- 2022 Dec;19(2):49-56.
- doi: 10.5734/JGM.2022.19.2.49
Mitophagy, the selective degradation of damaged or surplus mitochondria using core autophagy machinery, plays an essential role in maintaining cellular mitochondrial function. Impaired mitophagy is closely linked to various human... -
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- Clinical application of prenatal chromosomal microarray
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Seol CA
- KMID: 2537685
- J Genet Med.
- 2022 Dec;19(2):43-48.
- doi: 10.5734/JGM.2022.19.2.43
A prenatal chromosomal microarray (CMA) is generally recommended when a major anomaly is suspected on prenatal ultrasonography. As it can overcome the limitations of conventional karyotyping, it is expected that... -
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