KLHL24

Publications

Alkhalifah A et al. Burnlike scars: A sign suggestive of KLHL24-related epidermolysis bullosa simplex. Pediatr Dermatol. 2018;35(3):e193-e195. PMID: 29574966.

Anazi S et al. Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. Mol Psychiatry. 2017;22(4):615-624. PMID: 27431290.

El Hachem M et al. Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases. Acta Derm Venereol. 2019;99(2):238-239. PMID: 30226531.

Grilletta EA. et al. Cardiac transplant for epidermolysis bullosa simplex with KLHL24 mutation-associated cardiomyopathy. JAAD Case Rep. 2019;5(10):912-914. PMID: 31649980.

He Y et al. Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility. Am J Hum Genet. 2016;99(6):1395-1404. PMID: 27889062.

Hedberg-Oldfors C et al. Hypertrophic cardiomyopathy and abnormal glycogen storage in heart and skeletal muscle associated with inactivation of KLHL24. Neuromuscular Disord. 2016;26(Sup 2):S152.

Hedberg-Oldfors C et al. Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24. Hum Mol Genet. 2019;28(11):1919-1929. PMID: 30715372.

Lee JYW et al. Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex. J Invest Dermatol. 2017;137(6):1378-1380. PMID: 28111128.

Lin Z et al. Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. Nat Genet. 2016;48(12):1508-1516. PMID: 27798626.

Schwieger-Briel A et al. Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy. J Invest Dermatol. 2019;139(1):244-249. PMID: 30120936.

Yenamandra VK et al. Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24. Br J Dermatol. 2018;179(5):1181-1183. PMID: 29779254.