Paranchai Boonsawat, Pascal Joset, Katharina Steindl, Beatrice Oneda, Laura Gogoll, Silvia Azzarello-Burri, Frenny Sheth, Chaitanya Datar, Ishwar C Verma, Ratna Dua Puri, Marcella Zollino, Ruxandra Bachmann-Gagescu, Dunja Niedrist, Michael Papik, Joana Figueiro-Silva, Rahim Masood, Markus Zweier, Dennis Kraemer, Sharyn Lincoln, Lance Rodan, Sandrine Passemard, Séverine Drunat, Alain Verloes, Anselm H C Horn, Heinrich Sticht, Robert Steinfeld, Barbara Plecko, Beatrice Latal, Oskar Jenni, Reza Asadollahi, Anita Rauch
PURPOSE: Microcephaly is a sign of many genetic conditions but has been rarely systematically evaluated. We therefore comprehensively studied the clinical and genetic landscape of an unselected cohort of patients with microcephaly. METHODS: We performed clinical assessment, high-resolution chromosomal microarray analysis, exome sequencing, and functional studies in 62 patients (58% with primary microcephaly [PM], 27% with secondary microcephaly [SM], and 15% of unknown onset)...
March 7, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics