The Shwachman–Bodian–Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type

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 en...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Electronic Letter
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2598034/
https://ncbi.nlm.nih.gov/pubmed/17400792
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.043869
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