Associated Papers
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
Werren EA et al.
Nature Communications, 2024
38388531 (PubMed )
Supplement: 41467_2024_45948_MOESM1_ESM.pdf
Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome.
Werren E et al.
Research Square, 2023
Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges.
Janicki E et al.
Diagnostics (basel, Switzerland), 2023
The first reported case of Beaulieu-Boycott-Innes syndrome caused by two novel mutations in THOC6 gene in a Chinese infant.
Zhang Q et al.
Medicine, 2020
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability.
Mattioli F et al.
Human Molecular Genetics, 2019
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
Amos JS et al.
Clinical Genetics, 2017
Select a paper to view details