Associated Papers
A Report of Dual Presentations of Pseudo-TORCH Syndrome 1 and MCC2 Deficiency and Review of the Literature.
Talea A et al.
Molecular Syndromology, 2025
Genetic Mutations in Cell Junction Proteins Associated with Brain Calcification.
Yang D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
OCLN gene variants identified in three patients with severe neurodevelopmental disorder associated with epilepsy, intellectual disability and malformation of cortical development.
Oner TO et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2021
Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria.
Jenkinson EM et al.
Clinical Genetics, 2018
Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature.
Aggarwal S et al.
European Journal of Medical Genetics, 2016
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