A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype
Paolo Fontana, Monia Ginevrino, Kristel Bejo, Giuseppina Cantalupo, Maria Ciavarella, Cinzia Lombardi, Marianna Maioli, Francesca Scarano, Claudia Costabile, Antonio Novelli, Fortunato Lonardo
Topics & Concepts
Intellectual disabilityExome sequencingGeneticsPhenotypePtosisShort statureGlobal developmental delayBiologyGeneAutism spectrum disorderAutismMutationExomeMedicineEndocrinologyPharmacologyPsychiatryCongenital heart defects researchGenomic variations and chromosomal abnormalitiesGenomics and Rare Diseases