bibliographicCitation |
Amos JS, Huang L, Thevenon J, Kariminedjad A, Beaulieu CL, Masurel-Paulet A, Najmabadi H, Fattahi Z, Beheshtian M, Tonekaboni SH, Tang S, Helbig KL, Alcaraz W, Rivière JB, Faivre L, Innes AM, Lebel RR, Boycott KM; Care4Rare Canada Consortium. Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping. Clin Genet. 2017 Jan;91(1):92–9. doi: 10.1111/cge.12793. PMID: 27102954. |