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
Tassano, Elisa, Gimelli, Stefania, Divizia, Maria Teresa, Lerone, Margherita, Vaccari, Carlotta, Puliti, Aldamaria, Gimelli, GiorgioVolume:
8
Language:
english
Journal:
Molecular Cytogenetics
DOI:
10.1186/s13039-015-0188-6
Date:
December, 2015
File:
PDF, 1.21 MB
english, 2015