Successful clinical application of pre-implantation genetic diagnosis for infantile neuroaxonal dystrophy

Infantile neuroaxonal dystrophy (INAD) is a rare, lethal, autosomal recessive neurodegenerative disease and leads to progressive impairment of movement and cognition. A couple with a proband child with calcium-independent group VI phospholipase A2 (PLA2G6)-associated INAD and a previous affected pre...

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Detalles Bibliográficos
Autores principales: Hao, Yan, Chen, Dawei, Zhang, Guirong, Zhang, Zhiguo, Liu, Xiaojun, Zhou, Ping, Wei, Zhaolian, Xu, Xiaofeng, He, Xiaojin, Xing, Lixian, Lv, Mingrong, Ji, Dongmei, Chen, Beili, Zou, Weiwei, Wu, Huan, Liu, Yajing, Cao, Yunxia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6966177/
https://www.ncbi.nlm.nih.gov/pubmed/32010257
http://dx.doi.org/10.3892/etm.2019.8302

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6966177/
https://www.ncbi.nlm.nih.gov/pubmed/32010257
http://dx.doi.org/10.3892/etm.2019.8302

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