Associated Papers
Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review.
Sell LB et al.
Muscle & Nerve, 2026
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
37010288 (PubMed )
Supplement: supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx › S4
Mutations of CNTNAP1 led to defects in neuronal development.
Li W et al.
Jci Insight, 2020
CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review.
Sabbagh S et al.
Case Reports in Medicine, 2020
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.
Low KJ et al.
European Journal of Human Genetics : Ejhg, 2018
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