- A neonate with Say–Barber–Biesecker–Young– Simpson syndrome with a novel pathogenic mutation in KAT6B gene: A case report
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Shin JH, Lim HH, Gang MH, Kim SY, Yang Ss, Chang My
- KMID: 2524743
- J Genet Med.
- 2021 Dec;18(2):147-151.
- doi: 10.5734/JGM.2021.18.2.147
The Say–Barber–Biesecker–Young–Simpson variant of Ohdo syndrome (SBBYSS) (Online Mendelian Inheritance in Man #603736) is a rare autosomal dominant disorder and clinically features blepharophimosis with ptosis, a mask-like facial appearance, cryptorchidism,... -
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- A patient with multiple arterial stenosis diagnosed with Alagille syndrome: A case report
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Lee YH, Jeon YH, Lim SH, Ahn YH, Lee SY, Ko Jm, Ha IS, Kang HG
- KMID: 2524742
- J Genet Med.
- 2021 Dec;18(2):142-146.
- doi: 10.5734/JGM.2021.18.2.142
Alagille syndrome (AGS) is a rare autosomal dominant inherited disorder, with major clinical manifestations of bile duct paucity, cholestasis, cardiovascular anomaly, ophthalmic abnormalities, butterfly vertebrae, and dysmorphic facial appearance. It... -
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- Effective ketogenic diet in CACNA1A-related ‘epilepsy of infancy with migrating focal seizures’
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Na H, Lee S, Kim YO
- KMID: 2524741
- J Genet Med.
- 2021 Dec;18(2):137-141.
- doi: 10.5734/JGM.2021.18.2.137
Genetic causes of developmental and epileptic encephalopathy (DEE) have been rapidly uncovered from mid-2010s. The mutations of gene enconding calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A) are recently... -
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- A rare, likely pathogenic GCK variant related to maturity-onset diabetes of the young type 2: A case report
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So MK, Huh J, Kim HS
- KMID: 2524740
- J Genet Med.
- 2021 Dec;18(2):132-136.
- doi: 10.5734/JGM.2021.18.2.132
Maturity-onset diabetes of the young (MODY) is caused by autosomal dominant pathogenic variants in one of 14 currently known monogenic genes. Characteristics of patients with MODY include early-onset clinical disease... -
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- Two Korean siblings with autosomal recessive spinocerebellar ataxia 20 caused by homozygous variants in SNX14
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Kim AR, Lee JM, Seo GH, Lee SI, Bae H, Lee YJ
- KMID: 2524739
- J Genet Med.
- 2021 Dec;18(2):127-131.
- doi: 10.5734/JGM.2021.18.2.127
Autosomal recessive spinocerebellar ataxia 20 (SCAR20; OMIM #616354) is a recently described disorder that is characterized by ataxia, intellectual disability, cerebellar atrophy, macrocephaly, coarse face, and absent speech. It is... -
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- Chronic progressive external ophthalmoplegia in a Saudi patient with a mutation in the POLG gene successfully managed with bilateral frontalis sling
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Algahtani H, Shirah B, Alsaggaf K, Al-Qahtani MH, Abdulkareem AA, Naseer MI, Abuzinadah AR
- KMID: 2524738
- J Genet Med.
- 2021 Dec;18(2):121-126.
- doi: 10.5734/JGM.2021.18.2.121
Chronic progressive external ophthalmoplegia (CPEO) is a complex slowly progressive mitochondrial disorder characterized by extraocular muscle weakness with or without multisystem involvement. The mainstay of therapy in a patient with... -
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- Prenatal detection of Xq deletion by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis: A case report
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Kim BR, Kim R, Cho A, Kang HS, Park CM, Kim SY, Shim SS
- KMID: 2524737
- J Genet Med.
- 2021 Dec;18(2):117-120.
- doi: 10.5734/JGM.2021.18.2.117
We experienced a case of Xq deletion -- 46,X,del(X)(q22.3) -- detected by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis. Genetic counseling was a challenge because there are few reports... -
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- A case of follow-up of a patient with 22q11.2 distal deletion syndrome and a review of the literature
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Ha DJ, Park JS, Jang W, Jung Ny, Kim SJ, Moon Y, Lee J
- KMID: 2524736
- J Genet Med.
- 2021 Dec;18(2):110-116.
- doi: 10.5734/JGM.2021.18.2.110
Microdeletions of chromosome 22q11.2 are one of the most common microdeletions occurring in humans, and is known to be associated with a wide range of highly variable features. These deletions... -
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- Pediatric tetrasomy 18p presenting as a spastic cerebral palsy: A case report
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Lim I, Park SH, Suh MR, Kwak H, Park W, Shim SH, Kim M
- KMID: 2524735
- J Genet Med.
- 2021 Dec;18(2):105-109.
- doi: 10.5734/JGM.2021.18.2.105
Tetrasomy 18p is a genetic syndrome caused by an isochromosome consisting of two copies of the short arm of chromosome 18. Clinically, pediatric cases of tetrasomy 18p manifest with global... -
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- A female patient with Xp21 gene deletion syndrome
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Kim J, Lee H, Na JH, Lee YM
- KMID: 2524734
- J Genet Med.
- 2021 Dec;18(2):101-104.
- doi: 10.5734/JGM.2021.18.2.101
Xp21 contiguous gene deletion syndrome is associated with complex glycerol kinase deficiency, congenital adrenal hypoplasia, Duchene muscular dystrophy, and intellectual disability. Xp21 gene deletion syndrome is X-linked recessive, so most... -
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- Medical genomic approach to early-onset scoliosis
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Yim SY
- KMID: 2524733
- J Genet Med.
- 2021 Dec;18(2):94-100.
- doi: 10.5734/JGM.2021.18.2.94
Early onset scoliosis (EOS) describes the onset of scoliosis before the age of 10 years and is associated with significant health risks. Compared to adolescent idiopathic scoliosis, studies on the... -
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- Analyzing clinical and genetic aspects of axonal Charcot–Marie-Tooth disease
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Kwon HM, Choi BO
- KMID: 2524732
- J Genet Med.
- 2021 Dec;18(2):83-93.
- doi: 10.5734/JGM.2021.18.2.83
Charcot–Marie-Tooth disease (CMT) is the most common hereditary motor and sensory peripheral neuropathy. CMT is usually classified into two categories based on pathology: demyelinating CMT type 1 (CMT1) and axonal... -
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- Progress, challenges, and future perspectives in genetic researches of stuttering
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Kang C
- KMID: 2524731
- J Genet Med.
- 2021 Dec;18(2):75-82.
- doi: 10.5734/JGM.2021.18.2.75
Speech and language functions are highly cognitive and human-specific features. The underlying causes of normal speech and language function are believed to reside in the human brain. Developmental persistent stuttering,... -
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