Associated Papers
IDEDNIK syndrome: a newly recognized rare genetic disorder caused by AP1S1 and AP1B1 mutations.
Wu R et al.
Frontiers in Neurology, 2025
A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant.
Meriç R et al.
Clinical Dysmorphology, 2021
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