Associated Papers
A Novel Deleterious Variant and a Founder Effect in Four New Families of MBD4-Associated Neoplasia Syndrome Recruited Over a Period of 20 Years.
Querido I et al.
Clinical Genetics, 2026
A founder heterozygous mutation in Methyl-CpG binding domain protein 4 (MBD4) prevalent among Israeli Christian Arabs predisposes to increased mutagenesis.
Dadi G et al.
Haematologica, 2025
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
Palles C et al.
American Journal of Human Genetics, 2022
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