Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1.
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DOI: 10.1016/j.ejmg.2022.104449
Abstract: 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… read more here.
Keywords: kidar; deafness syndrome; ichthyosis; keratitis ichthyosis ... See more keywords