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
Mutation-targeted siRNA therapy for connexin 26-associated keratitis-ichthyosis-deafness syndrome
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DOI: 10.1016/j.jcyt.2019.04.033
Abstract: Background & Aim Keratitis-ichthyosis-deafness (KID) syndrome is a severe, currently untreatable condition characterized by ocular, auditory and cutaneous abnormalities, with major complications from infection to skin cancer. 86% of cases are caused by a heterozygous… read more here.
Keywords: gap junction; ichthyosis deafness; kid syndrome; 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
Suspect dyskeratotic neoformations in a 7-year-old child with keratitis-ichthyosis-deafness syndrome: diagnostic, surgical and wound care management
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DOI: 10.4081/dr.2024.9953
Abstract: Keratitis-ichthyosis-deafness syndrome (KID) is a rare genetic disorder characterized by the triad of hyperkeratosis, ichthyosis, and congenital prelingual sensorineural deafness, with less than 100 cases described in the literature. In addition to many other extra-cutaneous… read more here.
Keywords: ichthyosis; deafness; ichthyosis deafness; year old ... See more keywords