The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability
Yan Huang, Gabrielle Lemire, Lauren C. Briere, Fang Liu, Marja W. Wessels, Xueqi Wang, Matthew Osmond, Oguz Kanca, Shenzhao Lu, Frances A. High, Melissa Walker, Lance H. Rodan, Michael F. Wangler, Shinya Yamamoto, Kristin D. Kernohan, David A. Sweetser, Kym M. Boycott, Hugo J. Bellen
Topics & Concepts
MicrocephalyBiologyMissense mutationExome sequencingPhenotypeLoss functionAlleleGeneticsIntellectual disabilityGeneGenetics and Neurodevelopmental DisordersUbiquitin and proteasome pathwaysMicrotubule and mitosis dynamics