Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1.
Sign Up to like & getrecommendations! Published in 2022 at "European journal of medical genetics"
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
Keratitis‐ichthyosis‐deafness syndrome: A comprehensive review of cutaneous and systemic manifestations
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DOI: 10.1111/pde.15201
Abstract: Keratitis‐ichthyosis‐deafness syndrome is a rare genetic disease presenting with cutaneous, ocular, and otic defects. This comprehensive review provides insight into the clinical presentations, highlighting the cutaneous manifestations including histopathology and treatment options. read more here.
Keywords: comprehensive review; keratitis ichthyosis; ichthyosis deafness; deafness syndrome ... See more keywords