Associated Papers
Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.
Warren AJ
Advances in Biological Regulation, 2018
Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation.
Topa A et al.
American Journal of Medical Genetics. Part A, 2016
The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.
Nishimura G et al.
Journal of Medical Genetics, 2007
Select a paper to view details