Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case
Crossref DOI link: https://doi.org/10.1186/s13039-015-0188-6
Published Online: 2015-11-05
Published Print: 2015-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Tassano, Elisa
Gimelli, Stefania
Divizia, Maria Teresa
Lerone, Margherita
Vaccari, Carlotta
Puliti, Aldamaria
Gimelli, Giorgio