Laryngo-onycho-cutaneous (-like) syndrome due to mutated Plectin
Author:
Affiliation:
1. Department of Dermatology; University Hospital of the Paracelsus Medical University Salzburg; Salzburg Austria
Publisher
Wiley
Subject
Infectious Diseases,Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.14173/fullpdf
Reference9 articles.
1. Laryngo-onycho-cutaneous syndrome;Cohn;Dermatol Clin,2010
2. An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome;McLean;Hum Mol Genet,2003
3. Plectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve;Castañón;Histochem Cell Biol,2013
4. Plectin-related skin diseases;Natsuga;J Dermatol Sci,2015
5. Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency;Yiu;Muscle Nerve,2011
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1. Clinical heterogeneity in epidermolysis bullosa simplex with plectin ( PLEC ) mutations—A study of six unrelated families from India;American Journal of Medical Genetics Part A;2022-05-17
2. The natural history of laryngo‐onycho‐cutaneous syndrome: A case series of six pediatric patients and literature review;Pediatric Dermatology;2021-09
3. Cytoskeleton | Intermediate Filament Linker Proteins: Plectin and BPAG1;Encyclopedia of Biological Chemistry III;2021
4. Challenges of the differential diagnosis between the subtypes of the junctional epidermolysis bullosa: presentation of two clinical cases;Almanac of Clinical Medicine;2019-02-26
5. Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes;Experimental Dermatology;2018-06-28
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