The following links are additional resources about ZTTK Syndrome and the SON Gene. These links include the two original articles identifying the syndrome that were simultaneously published by The University of South Alabama and Baylor University.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

Zhu-Tokita-Takenouchi-Kim Syndrome: ZTTK Multiple Congenital Anomalies-Mental Retardation Syndrome

Science Daily - Unexplained developmental disorder linked to gene involved in essential cellular processes

NAN BYO Research - SON mutation causes intellectual disability

Genetic and Rare Diseases Information Center - ZTTK Syndrome

Hereditary Ocular Disease Database - ZTTK Syndrome

MalaCards Human Disease Database - ZTTK Syndrome

University of South Alabama - Leukemia Research Leads to Discovery of Syndrome

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON | European Journal of Human Genetics (nature.com)