A rare PALB2 germline variant causing G2/M cell cycle arrest is associated with isolated myelosarcoma in infancy

ConclusionTherefore, we suggestPALB2 p.A1079S as a pathogenic variant potentially contributing to the here observed patient phenotype.

Source: Molecular Genetics & Genomic Medicine - August 12, 2021 Category: Genetics & Stem Cells Authors: Angelina Beer, Ricardo Beck, Anne Schedel, Malte Bonin, J örn Meinel, Ulrike Anne Friedrich, Maria Menzel, Meinolf Suttorp, Sebastian Brenner, Guido Fitze, Björn Lange, Ralf Knöfler, Julia Hauer, Franziska Auer Tags: CLINICAL REPORT Source Type: research