Article
Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2015
Craiu Dana, Dragostin Octavia, Dica Alice, Hoffman-Zacharska Dorota, Gos Monika, Bastian Alexandra Eugenia, Gherghiceanu Mihaela, Rolfs Arndt, Nahavandi Nahid, Craiu Mihai, Iliescu Catrinel
Abstract excerpt
BACKGROUND: We present clinical and molecular findings of a patient with ceroid-lipofuscinosis CLN7, with a compound heterozygous mutation of the MFSD8 gene, with Rett syndrome clinical signs onset and a later development of full picture of vLINCL. CASE PRESENTATION: A 7 years-old female patient...
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