Skip Navigation
Skip to contents
Filter

ARTICLE TYPE

PUBLICATION DATE

11 results
Display

A case of Galloway-Mowat syndrome with novel compound heterozygous variants in the WDR4 gene

Kim H, Lee H, Lee YM

The combination of central nervous system abnormalities and renal impairment is a notable characteristic of GallowayMowat syndrome (GAMOS), a disease which often accompanies microcephaly, developmental delay, and nephrotic syndrome. Many...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Leri-Weill dyschondrosteosis in a newborn presenting with respiratory failure due to severe micrognathia

Gang MH, Lee J, Lee YW, Shin JH, Lim HH, Kim YM, Chang My

Short stature homeobox-containing gene (SHOX) is a well-known causative gene for the short stature in Turner syndrome. The clinical manifestation of SHOX gene related disorders varies from SHOX haploinsufficiency, presenting...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A newborn with developmental delay diagnosed with 4q35 deletion and 10p duplication

Kim BJ, Jang W, Kim M, Youn Y

We report the case of an infant with a 4q35.1 deletion with 10p duplication. This mutation is rarely reported in the literature and has been found to have variable clinical...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Hypotonia, Ataxia, and Delayed Development Syndrome caused by the EBF3 mutation in a Korean boy with muscle hypotonia

Kim TG, Choi YH, Lee YN, Kang MJ, Seo GH, Lee BH

Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS) is an autosomal-dominant, extremely rare neurodevelopmental disorder caused by the heterozygous EBF3 gene mutation. EBF3 is located on chromosome 10q26.3 and acts as...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Axonal Charcot-Marie-Tooth case with a novel heterozygous variant in MFN2 assessed by the MutationDistiller

Ryu HS, Lee YJ, Lee JM

Charcot-Marie-Tooth (CMT) disease can be divided mainly into demyelination and axonopathy based on the results of the electrophysiological study. Mitofusin 2, encoded by MFN2 gene, has a crucial role in...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Neonatal Silver-Russell syndrome assumed to result from maternal uniparental heterodisomy of chromosome 7

Kang Y, Kim J, Lee HJ, Park HK

Silver-Russell syndrome (SRS) is a rare genetic disorder characterized by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, a triangular face, body asymmetry, and feeding difficulties. It is primarily diagnosed...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A case with GRIN2A mutation and its non-neurological manifestations

Lee SY, Jung SY, Lee J

In epilepsy-aphasia spectrum (EAS) disorders, mutations in the glutamate receptor ionotropic N-methyl-D-aspartate type subunit 2A (GRIN2A) have become important for screening the disease. Research into the phenotypic variability of several...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Wide heterogeneity of congenital myasthenic syndromes: analysis of clinical experience in a tertiary center

Cho A, Kim SY, Lee JS, Lim BC, Kim H, Hwang H, Chae JH

Purpose: Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of disorders characterized by impaired neuromuscular transmission. This study aims to provide the clue for early diagnosis and...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Screening for down syndrome using trophoblast retrieval and isolation of the cervix: preliminary study

Lee MJ, Kim SH, Park HJ, Shim SH, Jang HY, Cha DH

Purpose: Trisomy 21, the cause of Down syndrome (DS) with various medical problems, is the most common aneuploidy during the fetal period. For diagnosis, a non-invasive screening test using maternal...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
One-year experience of oral substrate reduction therapy in three patients with Gaucher disease type I

Sohn YB, Kim Y, Moon JE

Purpose: Eliglustat is an oral substrate reduction therapy (SRT) approved for adults with Gaucher disease type I (GD1) who are extensive, intermediate, or poor CYP2D6 metabolizers. Here we report one-year...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Rehabilitation of spinal muscular atrophy: current consensus and future direction

Yi YG, Shin HI, Jang DH

Spinal muscular atrophy (SMA) is a neuromuscular disease that requires multidisciplinary medical care, including rehabilitation management. The emergence of a genetic therapy-based approach for SMA has markedly changed the disease...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close

Go to Top

Copyright © 2021 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr