Τίτλος:
The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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.
Συγγραφείς:
Delaporta, P.
Sofocleous, C.
Economou, M.
Makis, A.
Kostaridou, S.
Kattamis, A.
Περιοδικό:
Pediatric Blood and Cancer
Εκδότης:
John Wiley and Sons Inc
Λέξεις-κλειδιά:
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
