Associated Papers
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Husson T et al.
European Journal of Human Genetics : Ejhg, 2024
37872275 (PubMed )
Supplement: 41431_2023_1474_MOESM2_ESM.xlsx › Supp_table_1
The ATRX splicing variant c.21-1G>A is asymptomatic.
Kojima K et al.
Human Genome Variation, 2022
A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX.
Shimbo H et al.
Journal of Human Genetics, 2014
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