Publications

Alsaif HS et al.Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. Am J Hum Genet. 2019;105(5):1016–1022. PMID: 31630791.

Boyden LM et al.Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia. Am J Hum Genet. 2019;105(5):1023–1029. PMID: 31630788.