Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations.
Blood Cells, Molecules & Diseases
Meznarich, Jessica A JA; Draper, Lauren L; Christensen, Robert D RD; Yaish, Hassan M HM; Luem, Nick D ND; Pysher, Theodore J TJ; Jung, Grace G; Nemeth, Elizabeta E; Ganz, Tomas T; Ward, Diane M DM
Publication Date: 2018-07
Variant appearance in text: CDAN1: 1003C>T; Arg335Trp