Cardiac transplant for epidermolysis bullosa simplex with KLHL24 mutation–associated cardiomyopathy
Author:
Publisher
Elsevier BV
Subject
Dermatology
Reference7 articles.
1. The “Kelch” surprise: KLHL24, a new player in the pathogenesis of skin fragility;Has;J Invest Dermatol,2017
2. Mutations in KLHL24 add to the molecular heterogeneity of epidermolysis bullosa simplex;Lee;J Invest Dermatol,2017
3. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification;Fine;J Am Acad Dermatol,2014
4. Update on the Kelch-like (KLHL) gene family;Dhanoa;Hum Genom,2013
5. KLHL24: Beyond skin fragility;Bolling;J Invest Dermatol,2019
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1. Molecular genetic basis of epidermolysis bullosa;Vavilov Journal of Genetics and Breeding;2023-03-06
2. Towards a Better Understanding of Genotype–Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction;International Journal of Molecular Sciences;2022-09-15
3. Pathomechanisms of epidermolysis bullosa: Beyond structural proteins;Matrix Biology;2022-06
4. Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy;Human Molecular Genetics;2021-11-05
5. Case Report: De novo KLHL24 Gene Pathogenic Variants in Chinese Twin Boys With Epidermolysis Bullosa Simplex;Frontiers in Genetics;2021-11-05
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