Associated Papers
Hemidesmosome Mutations Contribute to the Onset and Severity of Acquired Autoimmune Bullous Diseases.
Cao S et al.
Medcomm, 2026
A novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese family.
Zhu R et al.
Molecular Genetics & Genomic Medicine, 2020
32783365 (PubMed )
Supplement: MGG3-8-e1441-s004.xlsx › Table_S2
Whole-Exome Sequencing Identified a De Novo Mutation of Junction Plakoglobin (p.R577C) in a Chinese Patient with Arrhythmogenic Right Ventricular Cardiomyopathy.
Liu L et al.
Biomed Research International, 2019
Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database.
Hall CL et al.
European Journal of Human Genetics : Ejhg, 2018
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S12
Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China.
Zhang L et al.
Mayo Clinic Proceedings, 2016
Cardiomyopathy diagnosed in the eldest child harbouring p.S24X mutation in JUP.
Boente Mdel C et al.
The British Journal of Dermatology, 2016
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.
Christensen AH et al.
Journal of Medical Genetics, 2010
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