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MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1.
Ito Y, Takeichi T, Igari S, Mori T, Ono A, Suyama K, Takeuchi S, Muro Y, Ogi T, Hosoya M, Yamamoto T, Akiyama M. Ito Y, et al. J Eur Acad Dermatol Venereol. 2021 May;35(5):e345-e347. doi: 10.1111/jdv.17098. Epub 2021 Jan 6. J Eur Acad Dermatol Venereol. 2021. PMID: 33349978 No abstract available.