Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome.

Hessa S Alsaif, Mohammad Al-Owain, Martin E Barrios-Llerena, Ghada Gosadi, Yousef Binamer, David Devadason, Jane Ravenscroft, Mohnish Suri, Fowzan S Alkuraya

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Medicine & Life Sciences