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Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management

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Description scientific article
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author: Pierre Bitoun  Jeanne Amiel  Pål R Njølstad  Delphine Héron  A. Micheil Innes  Jørn V Sagen  Paul Kuentz 

Publication date October 24, 2015
Language English
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