Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

Reference

Assoum, Mirna, et al. “Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy With Optic Atrophy”. The American Journal of Human Genetics, vol. 99, no. 6, Nov. 2016, pp. 1368–1376, https://doi.org/10.1016/j.ajhg.2016.10.009.

PubMed Reference Number (PMID)

27889060