Associated Papers
Report of one case with de novo mutation in TLK2 and literature review.
Li HY et al.
Bmc Pediatrics, 2024
High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses.
Vaknin N et al.
Prenatal Diagnosis, 2022
Report of two children with global developmental delay in association with de novo TLK2 variant and literature review.
Woods E et al.
American Journal of Medical Genetics. Part A, 2022
The Tousled-like kinases regulate genome and epigenome stability: implications in development and disease.
Segura-Bayona S et al.
Cellular and Molecular Life Sciences : Cmls, 2019
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Munnich A et al.
Molecular Autism, 2019
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Reijnders MRF et al.
American Journal of Human Genetics, 2018
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