First description of an unusual novel double mutation in MECP2 co-occurring with the m.827A>G mutation in the MT-RNR1 gene associated with angelman-like syndrome

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Authors: Marwa Kharrat, Chahnez Triki, Marwa Maalej, Sihem Ncir, Marwa Ammar, Fatma Kammoun, Faiza Fakhfakh

Journal title: International Journal of Developmental Neuroscience

Journal number: 79

Journal publisher: Pergamon Press Ltd.

Published year: 2019

Published pages: 37-44

DOI identifier: 10.1016/j.ijdevneu.2019.10.002

ISSN: 0736-5748