Article
Neurodevelopmental, Cognitive, and Psychosocial Outcomes for Individuals With Pathogenic Variants in the TCF12 Gene and Associated Craniosynostosis.
The Journal of craniofacial surgery - 1 May 2021
Kennedy-Williams Patrick, Care Helen, Dalton Louise, Horton Jo, Kearney Anna, Rooney Natasha, Hotton Matthew, Pinckston Molly, Huggons Esme, Culshaw Laura, Kilcoyne Sarah, Johnson David, Wilkie Andrew O M, Wall Steven
Abstract excerpt
ABSTRACT: Heterozygous mutations in the TCF12 gene were discovered in 2013 as a cause of craniosynostosis (CS). However, limited information regarding the behavioral phenotypic profile is available. Here the authors provide the first detailed study of the neurodevelopmental, cognitive, and psychosocial outcomes for patients with a pathogenic TCF12 variant and associated CS.A clinical casenote audit was conducted...
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