MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1.
Yasutoshi ItoTakuya TakeichiS IgariT MoriA OnoK SuyamaS TakeuchiYoshinao MuroT OgiM HosoyaT YamamotoM AkiyamaPublished in: Journal of the European Academy of Dermatology and Venereology : JEADV (2021)