Article
Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.
Annals of the New York Academy of Sciences - 1 Dec 2011
Dror Yigal, Donadieu Jean, Koglmeier Jutta, Dodge John, Toiviainen-Salo Sanna, Makitie Outi, Kerr Elizabeth, Zeidler Cornelia, Shimamura Akiko, Shah Neil, Cipolli Marco, Kuijpers Taco, Durie Peter, Rommens Johanna, Siderius Liesbeth, Liu Johnson M
Abstract excerpt
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by pancreatic exocrine insufficiency and bone marrow failure, often associated with neurodevelopmental and skeletal abnormalities. Mutations in the SBDS gene have been shown to cause SDS. The purpose of this document is to provide draft guidelines for diagnosis, evaluation of organ and system abnormalities, and treatment of...
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