MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1

J Eur Acad Dermatol Venereol. 2021 May;35(5):e345-e347. doi: 10.1111/jdv.17098. Epub 2021 Jan 6.

Authors

Y Ito¹, T Takeichi¹, S Igari², T Mori², A Ono³, K Suyama³, S Takeuchi¹, Y Muro¹, T Ogi⁴, M Hosoya³, T Yamamoto², M Akiyama¹

Affiliations

¹ Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
² Department of Dermatology, Fukushima Medical University, Fukushima, Japan.
³ Department of Pediatrics, Fukushima Medical University, Fukushima, Japan.
⁴ Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.

PMID: 33349978
DOI: 10.1111/jdv.17098

No abstract available

Publication types

Letter

MeSH terms

Adaptor Protein Complex 1 / genetics
Adaptor Protein Complex beta Subunits / genetics
Erythrokeratodermia Variabilis*
Heterozygote
Humans
Mutation
Syndrome

Substances

AP1B1 protein, human
Adaptor Protein Complex 1
Adaptor Protein Complex beta Subunits

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