A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report
Crossref DOI link: https://doi.org/10.1186/s12883-016-0554-y
Published Online: 2016-03-12
Published Print: 2016-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Winczewska-Wiktor, Anna
Badura-Stronka, Magdalena
Monies-Nowicka, Anna
Nowicki, Michal Maciej
Steinborn, Barbara
Latos-Bieleńska, Anna
Monies, Dorota