A novel claudin-10 mutation with a unique mechanism in two unrelated families with HELIX syndrome
Ali S. Alzahrani, Maged H. Hussein, Meshael Alswailem, Ahmad Mouna, Lina Albalawi, Yosra Moria, Mai Abdel Jabbar, Yufei Shi, Dorothee Günzel, Majed Dasouki
Topics & Concepts
ClaudinFrameshift mutationBiologyExome sequencingMolecular biologyMutationGeneticsExonTight junctionIchthyosisSanger sequencingGeneBarrier Structure and Function StudiesCongenital gastrointestinal and neural anomaliesHedgehog Signaling Pathway Studies