Using Whole Genome Sequence Analysis to Find Answers for Unsolved Cases of Inherited Bone Marrow Failure Syndrome

Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype

P Blombery, GL Ryland, LC Fox, Z Stark, M Wall, A Jarmolowicz, A Roesley, ER Thompson, SM Grimmond, S Panicker, F Kwok

2022-07-01