- Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism
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Hyun JK, Jung YJ
- KMID: 2435953
- J Genet Med.
- 2018 Dec;15(2):115-119.
- doi: 10.5734/JGM.2018.15.2.115
The 16p11.2 microdeletion has been reported in patients with developmental delays and intellectual disability. The distal 220-kb deletion in 16p11.2 is associated with developmental delay, autism spectrum disorder, epilepsy, and... -
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- Novel compound heterozygous mutations of ATM in ataxia-telangiectasia: A case report and calculated prevalence in the Republic of Korea
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Jang MJ, Lee CG, Kim HJ
- KMID: 2435952
- J Genet Med.
- 2018 Dec;15(2):110-114.
- doi: 10.5734/JGM.2018.15.2.110
Ataxia-telangiectasia (AT; OMIM 208900) is a rare autosomal recessive inherited progressive neurodegenerative disorder, with onset in early childhood. AT is caused by homozygous or compound heterozygous mutations in ATM (OMIM... -
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- X-linked Charcot-Marie-Tooth disease case with a novel missense mutation in GJB1 gene
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Lee JM, Shin JH
- KMID: 2435951
- J Genet Med.
- 2018 Dec;15(2):107-109.
- doi: 10.5734/JGM.2018.15.2.107
X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is caused by the mutation in GJB1 gene, characterized by the transient central nervous system involvement and long standing peripheral polyneuropathy which does not... -
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- Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature
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Kim YM, Cheon CK, Lim HH, Yoo HW
- KMID: 2435950
- J Genet Med.
- 2018 Dec;15(2):102-106.
- doi: 10.5734/JGM.2018.15.2.102
Aggrecan is a proteoglycan in the extracellular matrix of growth plate and cartilaginous tissues. Aggrecanopathy has been reported as a genetic cause not only for severe skeletal dysplasia but also... -
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- A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
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Park JM, Lee YJ, Park JS
- KMID: 2435949
- J Genet Med.
- 2018 Dec;15(2):97-101.
- doi: 10.5734/JGM.2018.15.2.97
Tricho-rhino-phalangeal syndrome (TRPS) is a hereditary disorder characterized by craniofacial and skeletal abnormalities. A mutation of the TRPS1 gene leads to TRPS type I or type III. A 20-year-old male... -
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- First Korean case of a STAT1 gene mutation: chronic mucocutaneous candidiasis, hypothyroidism, chronic hepatitis and systemic lupus erythematosus
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Kim KI, Lee H, Jung SY, Lee DH, Lee J
- KMID: 2435948
- J Genet Med.
- 2018 Dec;15(2):92-96.
- doi: 10.5734/JGM.2018.15.2.92
Chronic mucocutaneous candidiasis (CMC) is characterized by increased susceptibility to chronic and recurrent infections of the skin, mucous membranes, and nails by Candida species. It is a primary immunodeficiency disorder... -
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- Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing
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Gill I, Kim JH, Moon JH, Kim YJ, Kim NS
- KMID: 2435947
- J Genet Med.
- 2018 Dec;15(2):87-91.
- doi: 10.5734/JGM.2018.15.2.87
X-linked dominant mutations in lysosome-associated membrane protein 2 (LAMP2) gene have been shown to be the cause of Danon disease, which is a rare disease associated with clinical triad of... -
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- The clinical usefulness of non-invasive prenatal testing in pregnancies with abnormal ultrasound findings
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Boo H, Kim SY, Seoung ES, Kim MH, Kim MY, Ryu HM, Han YJ, Chung JH
- KMID: 2435946
- J Genet Med.
- 2018 Dec;15(2):79-86.
- doi: 10.5734/JGM.2018.15.2.79
PURPOSE: This study aimed to evaluate the clinical usefulness of non-invasive prenatal testing (NIPT) as an alternative testing of invasive diagnostic testing in pregnancies with ultrasound abnormalities. MATERIALS AND METHODS: This... -
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- Korean physicians' attitudes toward the prenatal screening for fetal aneuploidy and implementation of non-invasive prenatal testing with cell-free fetal DNA
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Kim SH, Kim KW, Han YJ, Lee SM, Lee MY, Shim JY, Cho GJ, Lee JH, Oh SY, Kwon HS, Cha DH, Ryu HM
- KMID: 2435945
- J Genet Med.
- 2018 Dec;15(2):72-78.
- doi: 10.5734/JGM.2018.15.2.72
PURPOSE: Physicians' attitudes may have a strong influence on women's decision regarding prenatal screening options. The aim of this study is to assess the physicians' attitudes toward prenatal screening for... -
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- Genetic overgrowth syndrome: A single center's experience
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Cheon CK, Kim YM, Yoon JY, Kim YA
- KMID: 2435944
- J Genet Med.
- 2018 Dec;15(2):64-71.
- doi: 10.5734/JGM.2018.15.2.64
PURPOSE: Overgrowth syndromes are conditions that involve generalized or localized areas of excess growth. In this study, the clinical, molecular, and genetic characteristics of Korean patients with overgrowth syndrome were... -
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- Integrated diagnostic approach of pediatric neuromuscular disorders
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Lee HN, Lee YM
- KMID: 2435943
- J Genet Med.
- 2018 Dec;15(2):55-63.
- doi: 10.5734/JGM.2018.15.2.55
Clinical and genetic heterogeneity in association with overlapping spectrum is characteristic in pediatric neuromuscular disorders, which makes confirmative diagnosis difficult and time consuming. Considering evolution of molecular genetic diagnosis and... -
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- Prenatal chromosomal microarray analysis of fetus with increased nuchal translucency
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Shim SH, Cha DH
- KMID: 2435942
- J Genet Med.
- 2018 Dec;15(2):49-54.
- doi: 10.5734/JGM.2018.15.2.49
Nuchal translucency is an important indicator of an aneuploid fetus in prenatal diagnostics. Previously, only the presence of aneuploid could be confirmed by conventional karyotyping of fetuses with thick nuchal... -
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