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Molecular study of portuguese patients with clinical diagnosis of Shwachman-Diamond syndrome

Authors :
Costa, Elísio
Oliveira, Jorge
Vieira, Emília
Garcia, Paula
Gonçalves, Isabel
Diogo, Luisa
Barbot, José
Santos, Rosário
Publication Year :
2007
Publisher :
European Hematology Association, 2007.

Abstract

Shwadurun-Diamond syndrome (SDS; MIM# 260400) is a rare autosomal recessive disorder characterized by the association of exocrine pancreatic and bone marrow disfunction.

Details

Language :
English
Database :
OpenAIRE
Accession number :
edsair.od......1255..649416541ed658b356c05df75b1d72c9