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Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.

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Description scientific article
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author: Louise Bicknell  Emma Baple  Andrew Jackson  Lilian Bomme Ousager  Anne Bruun Krøigård 

Publication date April 1, 2016
Language English
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