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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Group 2007
Pynciau:
Electronic Letter
Mynediad Ar-lein: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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