Article
Successful Nonmyeloablative Allogeneic Stem Cell Transplant in a Child With Emberger Syndrome and GATA2 Mutation.
Journal of pediatric hematology/oncology - 1 Aug 2018
Rastogi Neha, Abraham Roshini S, Chadha Ritu, Thakkar Dhwanee, Kohli Shruti, Nivargi Sagar, Prakash Yadav Satya
Abstract excerpt
Emberger syndrome with underlying guanine-adenine-thymine-adenine 2 (GATA2) mutation is a rare disorder and very few successful nonmyeloablative allogeneic hematopoietic stem cell transplants (HSCTs) have been reported. We report a case of Emberger syndrome with GATA2 mutation in a 9-year-old girl who presented with congenital sensorineural deafness, warts, lymphedema, and Myelodysplastic syndrome. Her sister had...
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