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

作者:Winczewska Wiktor Anna; Badura Stronka Magdalena; Monies Nowicka Anna; Nowicki Michal Maciej; Steinborn Barbara; Latos Bielenska Anna; Monies Dorota
来源:BMC Neurology, 2016, 16(1): 35.
DOI:10.1186/s12883-016-0554-y
  • 出版日期2016-3-12