Plantar keratoderma and curly hair as a diagnostic clue of cardiomyopathy risk-Reference-Cited by-同舟云学术

Plantar keratoderma and curly hair as a diagnostic clue of cardiomyopathy risk

Published:2024-03-25 Issue:5 Volume:51 Page:
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:The Journal of Dermatology

Author:

Gram Stine Bjørn¹²³^ORCID,Brusgaard Klaus¹²,Bygum Anette¹²⁴,Christensen Alex Hørby⁵,Ousager Lilian Bomme¹²

Affiliation:

1. Department of Clinical Genetics Odense University Hospital Odense Denmark

2. Department of Clinical Research University of Southern Denmark Odense Denmark

3. European Reference Network for Rare Skin Diseases (ERN‐Skin) Odense Denmark

4. Hudklinikken Kolding Koldig Denmark

5. Department of Cardiology Rigshospitalet and Herlev‐Gentofte Hospitals Hellerup Denmark

Funder

Robert Wehnerts og Kirsten Wehnerts Fond

Kongelig Hofbuntmager Aage Bangs Fond

Odense Universitetshospital

Fonden for Faglig Udvikling af Speciallægepraksis

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.17192

Reference5 articles.

1. Desmoplakin Cardiomyopathy: Comprehensive Review of an Increasingly Recognized Entity

2. Loss‐of‐function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype

3. DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma

4. Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: a comprehensive genotype‐imaging phenotype study;Augusto JB;Eur Heart J Cardiovasc Imaging,2020

5. Autosomal‐dominant biventricular arrhythmogenic cardiomyopathy in a large family with a novel in‐frame DSP nonsense mutation