A new <i>de novo</i> heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility-Reference-Cited by-同舟云学术

A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility

Published:2022-05-16 Issue:7 Volume:47 Page:1424-1426
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:Clin Experimental Derm

Author:

Ou Sokounthie¹^ORCID,Cesarato Nicole²,Mauran Pierre³,Gellé Marie‐Paule⁴,Thiele Holger⁵,Betz Regina C.²^ORCID,Viguier Manuelle¹,Gusdorf Laurence¹

Affiliation:

1. Services of Dermatology and Venereology Centre Hospitalier Universitaire (CHU) de Reims Reims France

2. Institute of Human Genetics University of Bonn Medical Faculty and University Hospital Bonn Bonn Germany

3. Services of Pediatric and Congenital Cardiology Centre Hospitalier Universitaire (CHU) de Reims Reims France

4. Services of Pediatric Oncology Centre Hospitalier Universitaire (CHU) de Reims Reims France

5. Cologne Center for Genomics University of Cologne Cologne Germany

Funder

Deutsche Forschungsgemeinschaft

German-Israeli Foundation for Scientific Research and Development

Publisher

Oxford University Press (OUP)

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ced.15210

Reference6 articles.

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

2. A New Hypo/Oligodontia Syndrome

3. A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis

4. Desmosomal Dysfunction due to Mutations in Desmoplakin Causes Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

5. Localization of antigens associated with adherens junctions, desmosomes, and hemidesmosomes during murine molar morphogenesis