THOC6

Publications

Accogli A et al. Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome. Am J Med Genet A. 2018;176(12):2835-2840. doi: 10.1002/ajmg.a.40534. Epub 2018 Sep 20. PMID: 30238602.

Anazi S et al. Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. Mol Psychiatry. 2017;22(4):615-624. doi: 10.1038/mp.2016.113. Epub 2016 Jul 19. PMID: 27431290.

Beaulieu CL et al. Intellectual disability associated with a homozygous missense mutation in THOC6. Orphanet J Rare Dis. 2013;8:62. doi: 10.1186/1750-1172-8-62. PMID: 23621916.

Casey J et al. Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies. Clin Dysmorphol. 2016;25(4):146-51. doi: 10.1097/MCD.0000000000000134. PMID: 27295358.

Gupta N et al. First report of THOC6 related intellectual disability (Beaulieu Boycott Innes syndrome) in two siblings from India. Eur J Med Genet. 2020;63(3):103742. doi: 10.1016/j.ejmg.2019.103742. Epub 2019 Aug 14.PMID: 31421288.

Hassanvand A et al. Proteinuria in Two Sisters with Beaulieu-Boycott-Innes Syndrome, A Case Report. Iran J Kidney Dis. 2020;14(4):312-314. PMID: 32655027.

Kiraz A et al. A truncating variant in the THOC6 gene with new findings in a patient with Beaulieu-Boycott-Innes syndrome. Am J Med Genet A. 2022;188(5):1568-1571. doi: 10.1002/ajmg.a.62667. Epub 2022 Jan 27. PMID: 35084103.

Lemire G et al. THOC6 Intellectual Disability syndrome; 2020 Aug 13. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. PMID: 32790266

Mattioli F et al. Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability. Hum Mol Genet. 2019;28(6):952-960. doi: 10.1093/hmg/ddy391. PMID: 30476144.

Ruaud L et al. Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature. Birth Defects Res. 2022;114(10):499-504. doi: 10.1002/bdr2.2011. Epub 2022 Apr 15. PMID: 35426486.