Shwachman-Diamond syndrome
Definition:
References:
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[1]. Emily F Freed, et al. When ribosomes go bad: diseases of ribosome biogenesis. Mol Biosyst. 2010 Mar;6(3):481-93. [Content Brief]
[2]. Graeme R B Boocock, et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet. 2003 Jan;33(1):97-101. [Content Brief]
[3]. Lauri Burroughs, et al. Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. Hematol Oncol Clin North Am. 2009 Apr;23(2):233-48. [Content Brief]
[4]. Polina Stepensky, et al. Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome. J Med Genet. 2017 Aug;54(8):558-566. [Content Brief]
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