Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype
- Author(s)
- Blombery, P; Ryland, GL; Fox, LC; Stark, Z; Wall, M; Jarmolowicz, A; Roesley, A; Thompson, ER; Grimmond, SM; Panicker, S; Kwok, F;
- Details
- Publication Year 2022-07,Volume 198,Issue #1,Page 196-199
- Journal Title
- British Journal of Haematology
- Publication Type
- Case report
- Keywords
- Amino Acid Sequence; *DNA Glycosylases/genetics/metabolism; DNA Methylation; DNA Repair; Endodeoxyribonucleases/chemistry/genetics/metabolism; Humans; *Neoplasms/genetics; Phenotype
- Department(s)
- Clinical Haematology; Pathology
- PubMed ID
- 35381620
- Publisher's Version
- https://doi.org/10.1111/bjh.18178
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2024-10-04 07:33:16
Last Modified: 2024-10-04 07:34:42