Article
The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.
Journal of medical genetics - 1 Apr 2007
Nishimura Gen, Nakashima Eiji, Hirose Yuichiro, Cole Trevor, Cox Phillip, Cohn Daniel H, Rimoin David L, Lachman Ralph S, Miyamoto Yoshinari, Kerr Bronwyn, Unger Sheila, Ohashi Hirofumi, Superti-Furga Andrea, Ikegawa Shiro
Abstract excerpt
The Shwachman-Bodian-Diamond syndrome (SBDS) gene is a causative gene for Shwachman-Diamond syndrome, an autosomal recessive disorder with exocrine pancreatic insufficiency, bone marrow dysfunction and skeletal dysplasia. We report here on two patients with skeletal manifestations at the severest...
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