Congenital transfusion-dependent anemia and thrombocytopenia with myelodysplasia due to a recurrent GATA1(G208R) germline mutation.
Kratz
C P
CP
Niemeyer
C M
CM
Karow
A
A
Volz-Fleckenstein
M
M
Schmitt-Gräff
A
A
Strahm
B
B
D000740:Anemia / Q000150:complications / Q000151:congenital / Q000235:genetics* / Q000628:therapy; D017707:Erythrocyte Transfusion; D005192:Family Health; D050982:GATA1 Transcription Factor / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009190:Myelodysplastic Syndromes / Q000150:complications / Q000235:genetics*; D013921:Thrombocytopenia / Q000150:complications / Q000235:genetics*
D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human