Abstract
Success of hematopoietic stem cell transplantation for MIRAGE syndrome may be limited by syndrome-specific comorbidities.
SAMD9 mutations associated with MIRAGE syndrome are a newly described cause of congenital amegakaryocytic thrombocytopenia.
Publication types
-
Case Reports
-
Research Support, N.I.H., Extramural
MeSH terms
-
Bone Marrow Diseases / mortality
-
Bone Marrow Diseases / pathology
-
Bone Marrow Diseases / therapy*
-
Congenital Bone Marrow Failure Syndromes
-
Female
-
Hematopoietic Stem Cell Transplantation / methods*
-
Humans
-
Infant
-
Intracellular Signaling Peptides and Proteins
-
Male
-
Mutation
-
Myelodysplastic Syndromes / mortality
-
Myelodysplastic Syndromes / therapy*
-
Phenotype
-
Prognosis
-
Proteins / genetics*
-
Syndrome
-
Thrombocytopenia / genetics*
-
Thrombocytopenia / mortality
-
Treatment Outcome
Substances
-
Intracellular Signaling Peptides and Proteins
-
Proteins
-
SAMD9 protein, human
Supplementary concepts
-
Congenital amegakaryocytic thrombocytopenia