Associated Papers
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
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM5_ESM.xlsx › Supplementary_Data_2
Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome.
Takeshita E et al.
Human Genome Variation, 2019
Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population.
Wang Y et al.
Scientific Reports, 2016
Patients with Rett syndrome sustain low-energy fractures.
Roende G et al.
Pediatric Research, 2011
Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases.
Kammoun F et al.
Journal of Medical Genetics, 2004
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