Genetic & Genomic MedicinemedRxivPreprint
Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders
Clara Pailler-Pradeau, Marianne Victoria Lemée, Caterina Cevallos…·Alexandre Reymond
The paper identifies rare variants in CSMD2 associated with neurodevelopmental disorders, showing both recessive and dominant inheritance patterns and functional impairments.
DOI 10.64898/2026.09.24.26361611