Severe neurodevelopmental disease caused by a homozygous TLK2 variant

A distinct neurodevelopmental phenotype characterised mainly by mild motor and language delay and facial dysmorphism, caused by heterozygous de novo or dominant variants in the TLK2 gene has recently been described. All cases reported carried either truncating variants located throughout the gene, o...

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Detalles Bibliográficos
Autores principales: Töpf, Ana, Oktay, Yavuz, Balaraju, Sunitha, Yilmaz, Elmasnur, Sonmezler, Ece, Yis, Uluc, Laurie, Steven, Thompson, Rachel, Roos, Andreas, MacArthur, Daniel G., Yaramis, Ahmet, Güngör, Serdal, Lochmüller, Hanns, Hiz, Semra, Horvath, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2019
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7028915/
https://www.ncbi.nlm.nih.gov/pubmed/31558842
http://dx.doi.org/10.1038/s41431-019-0519-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7028915/
https://www.ncbi.nlm.nih.gov/pubmed/31558842
http://dx.doi.org/10.1038/s41431-019-0519-x

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