TY  - JOUR
A1  - Manukjan, Georgi
A1  - Wiegering, Verena
A1  - Reindl, Tobias
A1  - Strauß, Gabriele
A1  - Klopocki, Eva
A1  - Schulze, Harald
A1  - Andres, Oliver
T1  - Novel variants in FERMT3 and RASGRP2 - Genetic linkage in Glanzmann-like bleeding disorders
JF  - Pediatric Blood & Cancer
N2  - Defects of platelet intracellular signaling can result in severe platelet dysfunction. Several mutations in each of the linked genes FERMT3 and RASGRP2 on chromosome 11 causing a Glanzmann‐like bleeding phenotype have been identified so far. We report on novel variants in two unrelated pediatric patients with severe bleeding diathesis—one with leukocyte adhesion deficiency type III due to a homozygous frameshift in FERMT3 and the other with homozygous variants in both, FERMT3 and RASGRP2 . We focus on the challenging genetic and functional variant assessment and aim to accentuate the risk of obtaining misleading results due to the phenomenon of genetic linkage.
KW  - bleding disorders other than hemophilia
KW  - hematology
KW  - hemostasis and thrombosis
KW  - platelet disorders
Y1  - 2020
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-208129
VL  - 67
IS  - 2
ER  -