Associated Papers
Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants.
Kariminejad A et al.
American Journal of Medical Genetics. Part A, 2019
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
The many faces of plectin and plectinopathies: pathology and mechanisms.
Winter L et al.
Acta Neuropathologica, 2013
Epidermolysis bullosa simplex with muscular dystrophy.
Chiavérini C et al.
Dermatologic Clinics, 2010
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.
Natsuga K et al.
Human Mutation, 2010
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations.
Pfendner E et al.
Experimental Dermatology, 2005
Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1).
Nakamura H et al.
The Journal of Molecular Diagnostics : Jmd, 2005
Select a paper to view details