Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome

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Authors: Marwa Kharrat, Yosra Kamoun, Fatma Kamoun, Emna Ellouze, Marwa Maalej, Nourhene Fendri-Kriaa, Leila Ammar-Keskes, Neila Belghith, Ali Gargouri, Chahnez Triki, Faiza Fakhfakh

Journal title: Journal of Child Neurology

Journal number: 32/8

Journal publisher: SAGE Publications

Published year: 2017

Published pages: 694-703

DOI identifier: 10.1177/0883073817701622

ISSN: 0883-0738