- A case of Galloway-Mowat syndrome with novel compound heterozygous variants in the WDR4 gene
-
Kim H, Lee H, Lee YM
- KMID: 2510002
- J Genet Med.
- 2020 Dec;17(2):97-101.
- doi: 10.5734/JGM.2020.17.2.97
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
-
- Close
- SHARE
-
- Close
- A newborn with developmental delay diagnosed with 4q35 deletion and 10p duplication
-
Kim BJ, Jang W, Kim M, Youn Y
- KMID: 2510003
- J Genet Med.
- 2020 Dec;17(2):102-107.
- doi: 10.5734/JGM.2020.17.2.102
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
-
- Close
- SHARE
-
- Close
- Axonal Charcot-Marie-Tooth case with a novel heterozygous variant in MFN2 assessed by the MutationDistiller
-
Ryu HS, Lee YJ, Lee JM
- KMID: 2510000
- J Genet Med.
- 2020 Dec;17(2):89-91.
- doi: 10.5734/JGM.2020.17.2.89
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
-
- Close
- SHARE
-
- Close
- Neonatal Silver-Russell syndrome assumed to result from maternal uniparental heterodisomy of chromosome 7
-
Kang Y, Kim J, Lee HJ, Park HK
- KMID: 2509999
- J Genet Med.
- 2020 Dec;17(2):83-88.
- doi: 10.5734/JGM.2020.17.2.83
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
-
- Close
- SHARE
-
- Close
- Rehabilitation of spinal muscular atrophy: current consensus and future direction
-
Yi YG, Shin HI, Jang DH
- KMID: 2509984
- J Genet Med.
- 2020 Dec;17(2):55-61.
- doi: 10.5734/JGM.2020.17.2.55
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
-
- Close
- SHARE
-
- Close
- A case with GRIN2A mutation and its non-neurological manifestations
-
Lee SY, Jung SY, Lee J
- KMID: 2509998
- J Genet Med.
- 2020 Dec;17(2):79-82.
- doi: 10.5734/JGM.2020.17.2.79
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
-
- Close
- SHARE
-
- 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
- KMID: 2510001
- J Genet Med.
- 2020 Dec;17(2):92-96.
- doi: 10.5734/JGM.2020.17.2.92
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
-
- Close
- SHARE
-
- 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
- KMID: 2509987
- J Genet Med.
- 2020 Dec;17(2):68-72.
- doi: 10.5734/JGM.2020.17.2.68
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
-
- Close
- SHARE
-
- 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
- KMID: 2509989
- J Genet Med.
- 2020 Dec;17(2):73-78.
- doi: 10.5734/JGM.2020.17.2.73
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
-
- Close
- SHARE
-
- 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
- KMID: 2510004
- J Genet Med.
- 2020 Dec;17(2):108-111.
- doi: 10.5734/JGM.2020.17.2.108
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
-
- Close
- SHARE
-
- Close
- One-year experience of oral substrate reduction therapy in three patients with Gaucher disease type I
-
Sohn YB, Kim Y, Moon JE
- KMID: 2509985
- J Genet Med.
- 2020 Dec;17(2):62-67.
- doi: 10.5734/JGM.2020.17.2.62
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
-
- Close
- SHARE
-
- Close
