Article
[HEXB gene study and prenatal diagnosis for a family affected by infantile Sandhoff disease].
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences - 1 Jul 2013
Wu Tongfei, Li Xiyuan, Wang Qiao, Liu Yupeng, Ding Yuan, Song Jinqing, Zhang Yao, Yang Yanling
Abstract excerpt
OBJECTIVE: To investigate the phenotype and genotype of a Chinese boy and his family affected by infantile Sandhoff disease. METHODS: The proband, a boy, was the first child born to a non-consanguineous couple. He showed startle reaction after birth and progressive psychomotor regression from the age of 8 months. From the age of 16 months, he presented seizures. When he was admitted at 17 months old, severe...
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