A de novo CTNNB1 nonsense mutation associated with...

BMC Neurology 2016 / 12 Vol. 16; Iss. 1

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

Winczewska-Wiktor, Anna, Badura-Stronka, Magdalena, Monies-Nowicka, Anna, Nowicki, Michal Maciej, Steinborn, Barbara, Latos-Bieleńska, Anna, Monies, Dorota
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Volume:
16
Language:
english
Journal:
BMC Neurology
DOI:
10.1186/s12883-016-0554-y
Date:
December, 2016
File:
PDF, 1.09 MB
english, 2016
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