Associated Papers
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.
Tinker RJ et al.
American Journal of Ophthalmology, 2025
40780579 (PubMed )
Supplement: NIHMS2116078-supplement-Supplementary_Material.pdf
Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia.
Maroofian R et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
40879451 (PubMed )
Supplement: MDS-40-2531-s003.xlsx › Foglio1
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.
Furia F et al.
Clinical Genetics, 2024
Homozygous Missense Variant in the N-Terminal Region of ANK3 Gene Is Associated with Developmental Delay, Seizures, Speech Abnormality, and Aggressive Behavior.
Younus M et al.
Molecular Syndromology, 2023
Neurodevelopmental mutation of giant ankyrin-G disrupts a core mechanism for axon initial segment assembly.
Yang R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
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