Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities.
Kakar N, Mascarenhas S, Ali A, Azmatullah, Ijlal Haider SM, Badiger VA, Ghofrani MS, Kruse N, Hashmi SN, Pozojevic J, Balachandran S, Toft M, Malik S, Händler K, Fatima A, Iqbal Z, Shukla A, Spielmann M, Radhakrishnan P.
Kakar N, et al. Among authors: iqbal z.
Hum Genet. 2024 Dec 21. doi: 10.1007/s00439-024-02718-6. Online ahead of print.
Hum Genet. 2024.
PMID: 39708122