The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature
Walid Fazeli, Daniel Bamborschke, Abubakar Moawia, Somayeh Bakhtiari, Abbas Tafakhori, Matthias Giersdorf, Andreas Hahn, Anja Weik, Kirsten Kolzter, Sajad Shafiee, Sheng Chih Jin, Friederike Körber, Min Ae Lee‐Kirsch, Hossein Darvish, Sebahattin Çırak, Michael C. Kruer, Anne Koy
Topics & Concepts
MicrocephalyPhenotypeEpilepsyDiseaseCortical dysplasiaDysplasiaBiologyEncephalopathyNeurosciencePediatricsMedicinePathologyGeneticsInternal medicineGeneCaveolin-1 and cellular processesRNA modifications and cancerRNA Research and Splicing