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The Greek Registry of Shwachman Diamond‐Syndrome: Molecular and clinical data
Author(s) -
Delaporta Polyxeni,
Sofocleous Christalena,
Economou Marina,
Makis Alexandros,
Kostaridou Stavroula,
Kattamis Antonis
Publication year - 2017
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.26630
Subject(s) - medicine , patient registry , disease registry , pediatrics , disease
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.