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
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.
Tolezano GC et al.
Molecular Neurobiology, 2024
Microcephaly and chorioretinopathy associated with TUBGCP4: a case report and a review of the literature.
Yahalom C et al.
Ophthalmic Genetics, 2023
Insurance denials and diagnostic rates in a pediatric genomic research cohort.
Zion TN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Bi-Allelic c.1746G>T; p.Leu582= Variants in TUBGCP4 in a Boy with Autism: Clinical Data and Literature Review.
Martín Fernández-Mayoralas D et al.
Molecular Syndromology, 2022
Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease.
Gungor S et al.
Iscience, 2021
Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.
Shurygina MF et al.
Investigative Ophthalmology & Visual Science, 2020
TUBGCP4 - associated microcephaly and chorioretinopathy.
Da Palma MM et al.
Ophthalmic Genetics, 2020
Clinical genome sequencing in an unbiased pediatric cohort.
Thiffault I et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30008475 (PubMed )
Supplement: 41436_2018_75_MOESM1_ESM.xlsx › Sheet1
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.
Scheidecker S et al.
American Journal of Human Genetics, 2015
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