Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth Disease

BACKGROUND AND OBJECTIVES: Charcot-Marie-Tooth disease (CMT) is a syndrome of a hereditary neurodegenerative condition affecting the peripheral nervous system and is a single gene disorder. Deep phenotyping coupled with advanced genetic techniques is critical in discovering new genetic defects of ra...

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Detalles Bibliográficos
Autores principales: Hsueh, Hsueh Wen, Kao, Hsiao-Jung, Chao, Chi-Chao, Hsueh, Sung-Ju, Huang, Yu-Ning, Lin, Wan-Jia, Su, Jen-Ping, Shy, Horng-Tzer, Yeh, Ti-Yen, Lin, Cheng-Chen, Kwok, Pui-Yan, Lee, Ni-Chung, Hsieh, Sung-Tsang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10281236/
https://www.ncbi.nlm.nih.gov/pubmed/37346931
http://dx.doi.org/10.1212/NXG.0000000000200078

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10281236/
https://www.ncbi.nlm.nih.gov/pubmed/37346931
http://dx.doi.org/10.1212/NXG.0000000000200078

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