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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Bibliographische Detailangaben
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Group 2007
Schlagworte:
Electronic Letter
Online Zugang: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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