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

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Description scientific article
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author: Sheila Unger  Yoshinari Miyamoto  Andrea Superti-Furga  Ralph S. Lachman  David Rimoin  Phillip Cox  Shirō Ikegawa  Gen Nishimura 

Publication date April 2007
Language English
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