Associated Papers
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.
Kharrat M et al.
Journal of Child Neurology, 2017
A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient.
Sheikh TI et al.
Orphanet Journal of Rare Diseases, 2013
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