Associated Papers
IDEDNIK syndrome: a newly recognized rare genetic disorder caused by AP1S1 and AP1B1 mutations.
Wu R et al.
Frontiers in Neurology, 2025
Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndrome.
Vornweg J et al.
The British Journal of Dermatology, 2021
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
Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia.
Boyden LM et al.
American Journal of Human Genetics, 2019
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