Clinical application of genome-wide single nucleotide polymorphism genotyping and karyomapping for preimplantation genetic testing of Charcot–Marie

Clinical application of genome-wide single nucleotide polymorphism genotyping and karyomapping for preimplantation genetic testing of Charcot–Marie–Tooth disease

Published:2022-06-30 Issue:1 Volume:19 Page:7-13
ISSN:1226-1769
Container-title:Journal of Genetic Medicine
language:en
Short-container-title:J Genet Med

Author:

Kim Min Jee¹²^ORCID,Park Sun Ok²^ORCID,Hong Ye Seul²^ORCID,Park Eun A¹³^ORCID,Lee Yu Bin⁴^ORCID,Choi Byung-Ok⁵^ORCID,Lee Kyung-Ah¹^ORCID,Yu Eun Jeong⁴^ORCID,Kang Inn Soo⁶^ORCID

Affiliation:

1. Department of Biomedical Sciences, College of Life Sciences, CHA University, Seongnam, Korea

2. Laboratory of Reproductive Genetics, CHA Biotech, Seoul, Korea

3. Fertility Research Lab, CHA Fertility Center Seoul Station, Seoul, Korea

4. Department of Obstetrics and Gynecology, CHA Fertility Center Seoul Station, CHA University School of Medicine, Seoul, Korea

5. Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

6. Department of Obstetrics and Gynecology, CHA Fertility Center Daegu, CHA University School of Medicine, Daegu, Korea

Publisher

Korean Society of Medical Genetics

Subject

General Medicine

Link

http://pdf.medrang.co.kr/JGM/2022/019/JGM019-01-7.pdf

Reference18 articles.

1. Genetic and clinical aspects of Charcot-Marie-Tooth's disease

2. Charcot-Marie-tooth disease: a new paradigm for the mechanism of inherited disease

3. Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease

4. Bird TD. Charcot-Marie-Tooth hereditary neuropathy overview. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW. eds. GeneReviews®. Seattle (WA): University of Washington, Seattle, 1993-2022.

5. Genetic epidemiology of Charcot-Marie-Tooth disease

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