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Article

Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1.

European journal of medical genetics - 1 Mar 2022

Faghihi Fatemeh, Khamirani Hossein Jafari, Zoghi Sina, Kamal Neda, Yeganeh Babak Shirazi, Dianatpour Mehdi, Bagher Tabei Seyed Mohammad, Dastgheib Seyed Alireza

Abstract excerpt

Inborn errors in copper metabolism result in a diverse set of abnormalities such as Wilson disease and MEDNIK syndrome. Homozygous pathogenic variants in AP1B1 lead to KIDAR (Keratitis-Ichthyosis-Deafness Syndrome). The main phenotypic features of KIDAR are ichthyosis, keratitis, erythroderma, and progressive hearing loss accompanied by developmental delay and failure to thrive. Herein, we describe a...

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PMID: 35144013
DOI: 10.1016/j.ejmg.2022.104449

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