Associated Papers
Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
Vahidnezhad H et al.
Human Mutation, 2022
Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.
Pongor LS et al.
Scientific Reports, 2020
32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › HR-deficient__BRCA2_mutant
A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report.
Argyropoulou Z et al.
Bmc Dermatology, 2018
Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report.
Kyrova J et al.
Journal of Dermatological Case Reports, 2016
The many faces of plectin and plectinopathies: pathology and mechanisms.
Winter L et al.
Acta Neuropathologica, 2013
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