Phenotypic variability of Shwachman–Bodian–Diamond syndrome gene mutations

Posted by & filed under Part 22: CONNECTIVE TISSUE.

 

Mutations in the Shwachman–Bodian–Diamond syndrome gene mutations can also give rise to a neonatal for of spondylometaphysial dysplasia.

The Shwachman–Bodian–Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type
Gen Nishimura, Eiji Nakashima, Yuichiro Hirose, Trevor Cole, Phillip Cox, Daniel H Cohn, David L Rimoin, Ralph S Lachman, Yoshinari Miyamoto, Bronwyn Kerr, Sheila Unger, Hirofumi Ohashi, Andrea Superti-Furga and Shiro Ikegawa
Journal of Medical Genetics 2007;44:e73; doi:10.1136/jmg.2006.043869
 

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