Hussain, S., Nawaz, S., Khan, H., Acharya, A., Schrauwen, I., Ahmad, W., & Leal, S. M. (2022). A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV. Annals of Human Genetics, 86(6), 291–296. Portico. https://doi.org/10.1111/ahg.12462

Green, T. E., Motelow, J. E., Bennett, M. F., Ye, Z., Bennett, C. A., Griffin, N. G., Damiano, J. A., Leventer, R. J., Freeman, J. L., Harvey, A. S., Lockhart, P. J., Sadleir, L. G., Boys, A., Scheffer, I. E., Major, H., Darbro, B. W., Bahlo, M., Goldstein, D. B., Kerrigan, J. F., … Hildebrand, M. S. (2022). Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions. Human Molecular Genetics, 31(14), 2307–2316. https://doi.org/10.1093/hmg/ddab366

Chiu, N., Lee, W., Liu, P.-K., Levi, S. R., Wang, H.-H., Chen, N., Kang, E. Y.-C., Seo, G. H., Lee, H., Liu, L., Wu, W.-C., Tsai, S. H., & Wang, N.-K. (2021). A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature. Ophthalmic Genetics, 43(3), 378–384. https://doi.org/10.1080/13816810.2021.2010773