Article
Successful outcome of allogeneic stem cell transplantation in Seckel syndrome.
Pediatric transplantation - 1 May 2014
Darrigo Luiz Guilherme, Rodrigues Maria Carolina, Pieroni Fabiano, Stracieri Ana Beatriz Pereira Lima, Moraes Daniela Aparecida, Grecco Carlos Eduardo Setanni, Dias Juliana Bernardes Elias, Sobral Ana Carolina, Simões Belinda Pinto
Abstract excerpt
Seckel syndrome is a rare autosomal recessive disease, genetically heterogeneous, characterized by short stature, prenatal microcephaly, intellectual disability, dysmorphic features, chromosomal instability, and hematological disorders. We report the case of a six-yr-old boy with Seckel syndrome and aplastic anemia who underwent successful allogeneic bone marrow transplantation from ten of ten HLA matched...
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