Ontology highlight
ABSTRACT:
SUBMITTER: Hao Y
PROVIDER: S-EPMC6966177 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Hao Yan Y Chen Dawei D Zhang Guirong G Zhang Zhiguo Z Liu Xiaojun X Zhou Ping P Wei Zhaolian Z Xu Xiaofeng X He Xiaojin X Xing Lixian L Lv Mingrong M Ji Dongmei D Chen Beili B Zou Weiwei W Wu Huan H Liu Yajing Y Cao Yunxia Y
Experimental and therapeutic medicine 20191209 2
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 pregnancy sought pre-implantation genetic diagnosis (PGD) to bear a healthy child. Intracytoplasmic sperm injection treatment was performed and 15 blastocystic embryos were obtained at days 5 and 6, and ...[more]