期刊
PEDIATRIC BLOOD & CANCER
卷 64, 期 11, 页码 -出版社
WILEY
DOI: 10.1002/pbc.26630
关键词
Greek; psoriasis; registry; Shwachman-Diamond syndrome; transplantation
资金
- National Kapodistrian University of Athens [ELKE 56/90/5924, 6900-AK]
- Research Institute for the Study of Genetic and Malignant Disorders in Childhood
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.
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