TY - JOUR
TI - The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data
AU - Delaporta, P.
AU - Sofocleous, C.
AU - Economou, M.
AU - Makis, A.
AU - Kostaridou, S.
AU - Kattamis, A.
JO - Pediatric Blood and Cancer
PY - 2017
VL - 64
TODO - 11
SP - null
PB - John Wiley and Sons Inc
SN - 1545-5009, 1545-5017
TODO - 10.1002/pbc.26630
TODO - adolescent;  anemia;  Article;  bone marrow transplantation;  cardiomyopathy;  child;  clinical article;  cytogenetics;  disease severity;  female;  gene;  gene mutation;  Greece;  growth retardation;  heterozygote;  human;  infant;  lipomatosis;  male;  neutropenia;  pancreatic insufficiency;  patent foramen ovale;  prematurity;  preschool child;  priority journal;  psoriasis;  register;  shwachman bodian diamond syndrome gene;  Shwachman syndrome;  skeleton malformation;  thrombocytopenia;  bone marrow disease;  exocrine pancreatic insufficiency;  genetics;  mutation;  pathology;  phenotype;  prognosis;  register;  statistics and numerical data, protein;  SBDS protein, human, Adolescent;  Bone Marrow Diseases;  Child, Preschool;  Exocrine Pancreatic Insufficiency;  Female;  Greece;  Humans;  Infant;  Lipomatosis;  Male;  Mutation;  Phenotype;  Prognosis;  Proteins;  Registries
TODO - This study presents the clinical phenotype and molecular analysis findings from 11 patients recorded in the Greek Shwachman–Diamond syndrome (SDS) Registry. The most severely affected patient in our registry was diagnosed at birth and is the first patient reported to require bone marrow transplantation so early in life. Severe psoriasis, a feature not previously reported in SDS, was observed in one patient. Mutations in the Shwachman–Bodian–Diamond syndrome gene (SBDS) were found in all patients. Cytogenetic analyses revealed clonal abnormalities, one novel, in two patients. © 2017 Wiley Periodicals, Inc.
ER -