Associated Papers
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline.
Kim JA et al.
Journal of Human Genetics, 2022
Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome.
Takeshita E et al.
Human Genome Variation, 2019
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.
Bianciardi L et al.
Journal of Human Genetics, 2016
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