1. Faghihi, Fatemeh, Khamirani, Hossein Jafari, Zoghi, Sina, Bagher Tabei, Seyed Mohammad, Dastgheib, Seyed Alireza. 2022. Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1. In European journal of medical genetics, 65, 104449. doi:10.1016/j.ejmg.2022.104449. https://pubmed.ncbi.nlm.nih.gov/35144013/
2. Boyden, Lynn M, Atzmony, Lihi, Hamilton, Claire, Ferguson, Shawn, Choate, Keith A. 2019. Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia. In American journal of human genetics, 105, 1023-1029. doi:10.1016/j.ajhg.2019.09.021. https://pubmed.ncbi.nlm.nih.gov/31630788/
3. Liu, Wenfei, Taso, Orjona, Wang, Rui, Edwards, Frances A, Salih, Dervis A. . Trem2 promotes anti-inflammatory responses in microglia and is suppressed under pro-inflammatory conditions. In Human molecular genetics, 29, 3224-3248. doi:10.1093/hmg/ddaa209. https://pubmed.ncbi.nlm.nih.gov/32959884/
4. Ito, Y, Takeichi, T, Igari, S, Yamamoto, T, Akiyama, M. 2021. MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1. In Journal of the European Academy of Dermatology and Venereology : JEADV, 35, e345-e347. doi:10.1111/jdv.17098. https://pubmed.ncbi.nlm.nih.gov/33349978/
5. Vasconcelos, Alice P, Nogueira, Ana, Matos, Pedro, Dória, Sofia, Pinto Moura, Carla. 2023. Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature. In European journal of medical genetics, 66, 104827. doi:10.1016/j.ejmg.2023.104827. https://pubmed.ncbi.nlm.nih.gov/37657632/
6. Clemens Grisham, Rachel, Kindt, Katie, Finger-Baier, Karin, Schmid, Bettina, Nicolson, Teresa. 2013. Mutations in ap1b1 cause mistargeting of the Na(+)/K(+)-ATPase pump in sensory hair cells. In PloS one, 8, e60866. doi:10.1371/journal.pone.0060866. https://pubmed.ncbi.nlm.nih.gov/23593334/
7. Alsaif, Hessa S, Al-Owain, Mohammad, Barrios-Llerena, Martin E, Suri, Mohnish, Alkuraya, Fowzan S. 2019. Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. In American journal of human genetics, 105, 1016-1022. doi:10.1016/j.ajhg.2019.09.020. https://pubmed.ncbi.nlm.nih.gov/31630791/