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. 2020 Aug;182(8):1985-1987.
doi: 10.1002/ajmg.a.61717. Epub 2020 Jun 23.

Confirming TBC1D32-related ciliopathy in humans

Nada Alsahan  1 , Fowzan S Alkuraya  2   3
Affiliations

Confirming TBC1D32-related ciliopathy in humans

Nada Alsahan et al. Am J Med Genet A. 2020 Aug.
No abstract available

Keywords: anophthalmia; hydrocephalus; midline; single nostril.

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References

REFERENCES

    1. Adly, N., Alhashem, A., Ammari, A., & Alkuraya, F. S. (2014). Ciliary Genes TBC 1 D 32/C6orf170 and SCLT 1 are Mutated in Patients with OFD Type IX. Human Mutation, 35(1), 36-40.
    1. Hietamäki, J., Gregory, L. C., Ayoub, S., Iivonen, A.-P., Vaaralahti, K., Liu, X., … Känsäkoski, J. (2020). Loss-of-function variants in TBC1D32 underlie syndromic hypopituitarism. The Journal of Clinical Endocrinology & Metabolism, 105, dgaa078.
    1. Maddirevula, S., Alzahrani, F., Al-Owain, M., Al Muhaizea, M. A., Kayyali, H. R., AlHashem, A., … Balobaid, A. (2019). Autozygome and high throughput confirmation of disease genes candidacy. Genetics in Medicine, 21(3), 736-742.
    1. Monies, D., Abouelhoda, M., Assoum, M., Moghrabi, N., Rafiullah, R., Almontashiri, N., … Subhani, S. (2019). Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population. The American Journal of Human Genetics, 104(6), 1182-1201.
    1. Shamseldin, H. E., Shaheen, R., Ewida, N., Bubshait, D. K., Alkuraya, H., Almardawi, E., … Alfaifi, A. Y. (2020). The morbid genome of ciliopathies: an update. Genetics in Medicine. https://doi.org/10.1038/s41436-020-0761-1.

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