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Article

Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

14 May 2023

Abstract excerpt

Contactin-associated protein-like 2 (CNTNAP2) gene encodes for CASPR2, a presynaptic type 1 transmembrane protein, involved in cell-cell adhesion and synaptic interactions. Biallelic CNTNAP2 loss has been associated with "Pitt-Hopkins-like syndrome-1" (MIM#610042), while the pathogenic role of heterozygous variants remains controversial. We report 22 novel patients harboring mono- (n = 2) and bi-allelic (n = 20)...

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PMID: 37183190
DOI: 10.1007/s00439-023-02552-2

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