Severe craniofrontonasal syndrome in a male patient mosaic for a novel nonsense mutation in EFNB1
Varote Shotelersuk, Wuttichart Kamolvisit, Nond Rojvachiranonda, Kanya Suphapeetiporn, Thantrira Porntaveetus, Vorasuk Shotelersuk
Topics & Concepts
Nonsense mutationSanger sequencingGeneticsNonsenseMutationBiologyBuccal swabExome sequencingMedicineGeneMissense mutationCancer-related Molecular PathwaysAxon Guidance and Neuronal SignalingWnt/β-catenin signaling in development and cancer