Article
Successful PGD for late infantile neuronal ceroid lipofuscinosis achieved by combined chromosome and TPP1 gene analysis.
Reproductive biomedicine online - 1 Aug 2013
Shen Jiandong, Cram David Stephen, Wu Wei, Cai Lingbo, Yang Xiaoyu, Sun Xueping, Cui Yugui, Liu Jiayin
Abstract excerpt
Late infantile neuronal ceroid lipofuscinosis (NCL-2) is a severe debilitating autosomal recessive disease caused by mutations in TPP1. There are no effective treatments, resulting in early childhood death. A couple with two affected children presented for reproductive genetic counselling and cho...
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