Associated Papers
Neuro-ophthalmic disorders resulting from defects in the gamma tubulin ring complex: a clinically oriented review.
Helms M et al.
Ophthalmic Genetics, 2026
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
Thomas-Wilson A et al.
American Journal of Medical Genetics. Part A, 2023
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.
Shurygina MF et al.
Investigative Ophthalmology & Visual Science, 2020
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
Martin CA et al.
Nature Genetics, 2014
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