TERC mutations in children with refractory cytopenia.
Mutations in the human telomerase RNA gene (TERC) cause autosomal dominant dyskeratosis congenita and have been detected in individuals with bone marrow failure. Here, we screened for TERC mutations in a cohort of 80 children with hypocellular myelodysplastic syndrome and detected TERC alterations in two of them.
Ortmann
Christina A
CA
Niemeyer
Charlotte M
CM
Wawer
Angela
A
Ebell
Wolfram
W
Baumann
Irith
I
Kratz
Christian P
CP