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A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

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Description scientific article
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author: Barbara Steinborn  Magdalena Badura-Stronka  Anna Winczewska-Wiktor  Anna Latos-Bieleńska  Dorota Monies 

Publication date March 12, 2016
Language English
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