Ontology highlight
ABSTRACT:
SUBMITTER: Gokce M
PROVIDER: S-EPMC3710552 | biostudies-literature | 2013 Sep
REPOSITORIES: biostudies-literature
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 20120604 3
A three-month-old boy presented with growth failure, skeletal abnormalities, otitis media and pancytopenia. Exocrine pancreatic insufficiency was confirmed by low levels of fecal elastase. He was diagnosed as Shwachman-Diamond syndrome by clinical and laboratory findings. The diagnosis was confirmed by sequence analysis for SBDS gene on chromosome seven revealing compound heterozygous mutation, which are c.258+2T-C and c.183-184TA-CT. Matched unrelated donor screening for hematopoietic stem cell ...[more]