A de novo inframe deletion variant in <scp><i>CAPZA2</i></scp> tentacle domain with global developmental delay and secondary microcephaly
Shanyu Pi, Xiao Mao, Hongyu Long, Hua Wang
Abstract
(A) Sanger sequencing confirmation and family pedigree for the patient. (B) A schematic representation of transcript and translation showing the positions of all CAPZA2 variants identified.
Topics & Concepts
MicrocephalyGeneticsSanger sequencingBiologyDomain (mathematical analysis)Translation (biology)DNA sequencingGeneMessenger RNAMathematical analysisMathematicsGenomics and Rare DiseasesMicrotubule and mitosis dynamicsHippo pathway signaling and YAP/TAZ