Anazi S et al. Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. Molec Psychiat. 2017;22(4): 615-624. PMID: 27431290.
Assoum M et al. Autosomal-recessive mutations in AP3B2, adaptor-related protein complex 3 beta 2 subunit, cause an early-onset epileptic encephalopathy with optic atrophy. Am J Hum Genet. 2016;99(6): 1368-1376. PMID: 27889060.
AP3B2