Associated Papers
Biallelic novel CCDC186 loss-of-function variant disrupting the gene function causes neurodevelopmental phenotype and review of the literature.
Gezdirici A et al.
Brain & Development, 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.
Arrabal L et al.
International Journal of Molecular Sciences, 2023
A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy.
Brugger M et al.
Annals of Clinical and Translational Neurology, 2021
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