High Functioning Autism with Missense Mutations in Synaptotagmin-Like Protein 4 (SYTL4) and Transmembrane Protein 187 (TMEM187) Genes: SYTL4- Protein Modeling, Protein-Protein Interaction, Expression Profiling and MicroRNA Studies

We describe a 7-year-old male with high functioning autism spectrum disorder (ASD) and maternally-inherited rare missense variant of Synaptotagmin-like protein 4 (<i>SYTL4)</i> gene (Xq22.1; c.835C&gt;T; p.Arg279Cys) and an unknown missense variant of Transmembrane protein 187 (<i...

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Bibliographic Details
Main Authors: Syed K. Rafi, Alberto Fernández-Jaén, Sara Álvarez, Owen W. Nadeau, Merlin G. Butler
Format: Article
Language:English
Published: MDPI AG 2019-07-01
Series:International Journal of Molecular Sciences
Subjects:
Online Access:https://www.mdpi.com/1422-0067/20/13/3358