Skip Navigation
Skip to contents
Filter

ARTICLE TYPE

PUBLICATION DATE

13 results
Display

A neonate with Say–Barber–Biesecker–Young– Simpson syndrome with a novel pathogenic mutation in KAT6B gene: A case report

Shin JH, Lim HH, Gang MH, Kim SY, Yang Ss, Chang My

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,...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A patient with multiple arterial stenosis diagnosed with Alagille syndrome: A case report

Lee YH, Jeon YH, Lim SH, Ahn YH, Lee SY, Ko Jm, Ha IS, Kang HG

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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Effective ketogenic diet in CACNA1A-related ‘epilepsy of infancy with migrating focal seizures’

Na H, Lee S, Kim YO

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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A rare, likely pathogenic GCK variant related to maturity-onset diabetes of the young type 2: A case report

So MK, Huh J, Kim HS

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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Two Korean siblings with autosomal recessive spinocerebellar ataxia 20 caused by homozygous variants in SNX14

Kim AR, Lee JM, Seo GH, Lee SI, Bae H, Lee YJ

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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Chronic progressive external ophthalmoplegia in a Saudi patient with a mutation in the POLG gene successfully managed with bilateral frontalis sling

Algahtani H, Shirah B, Alsaggaf K, Al-Qahtani MH, Abdulkareem AA, Naseer MI, Abuzinadah AR

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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Prenatal detection of Xq deletion by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis: A case report

Kim BR, Kim R, Cho A, Kang HS, Park CM, Kim SY, Shim SS

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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A case of follow-up of a patient with 22q11.2 distal deletion syndrome and a review of the literature

Ha DJ, Park JS, Jang W, Jung Ny, Kim SJ, Moon Y, Lee J

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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Pediatric tetrasomy 18p presenting as a spastic cerebral palsy: A case report

Lim I, Park SH, Suh MR, Kwak H, Park W, Shim SH, Kim M

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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A female patient with Xp21 gene deletion syndrome

Kim J, Lee H, Na JH, Lee YM

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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Medical genomic approach to early-onset scoliosis

Yim SY

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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Analyzing clinical and genetic aspects of axonal Charcot–Marie-Tooth disease

Kwon HM, Choi BO

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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Progress, challenges, and future perspectives in genetic researches of stuttering

Kang C

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,...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close

Go to Top

Copyright © 2022 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr