Associated Papers
MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1.
Ito Y et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2021
Clinical, etiopathogenic, and therapeutic aspects of KID syndrome.
Cammarata-Scalisi F et al.
Dermatologic Therapy, 2020
Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia.
Boyden LM et al.
American Journal of Human Genetics, 2019
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