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

Autor:	Sokounthie Ou, Nicole Cesarato, Pierre Mauran, Marie‐Paule Gellé, Holger Thiele, Regina C. Betz, Manuelle Viguier, Laurence Gusdorf
Rok vydání:	2022
Předmět:	Desmoplakins Keratoderma Palmoplantar Mutation Missense Humans Female Dermatology Hair Diseases Anodontia
Zdroj:	Clinical and Experimental Dermatology. 47:1424-1426
ISSN:	1365-2230 0307-6938
Popis:	A new de novo heterozygous mutation in the desmoplakin gene, causing Naxos and Carvajal disease, has been reported in a 13-year-old Caucasian girl, with expanded clinical phenotype. In addition to woolly hair, palmoplantar keratoderma and cardiomyopathy, she had oligodontia and nail fragility. These additional clinical features may help in the diagnosis of Naxos and Carvajal disease, known to be severe on the cardiac level.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32e68abc84cf111da064372144b1f57a https://doi.org/10.1111/ced.15210 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
Nepřihlášeným uživatelům se plný text nezobrazuje	K zobrazení výsledku je třeba se přihlásit.