Associated Papers
Missense and Inframe Pathogenic Variants in PLEC Lead to Minimal or Delayed-Onset Muscular Dystrophy in Autosomal Recessive Epidermolysis Bullosa Simplex: A Genotype-Phenotype Correlation in Nine Cases.
Yang MC et al.
The Journal of Dermatology, 2025
Molecular genetic basis of epidermolysis bullosa.
Kotalevskaya YY et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2023
Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
Vahidnezhad H et al.
Human Mutation, 2022
Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.
Pânzaru MC et al.
Diagnostics (basel, Switzerland), 2022
Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes.
Has C et al.
Experimental Dermatology, 2019
[Research advances in limb-girdle muscular dystrophy type 2Q].
Zhang M et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019
The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.
Has C et al.
Acta Dermato-venereologica, 2018
Advances in understanding the molecular basis of skin fragility.
Has C
F1000research, 2018
Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.
Gostyńska KB et al.
Human Molecular Genetics, 2015
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