A truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study

BACKGROUND: Homozygous truncating mutations located in the C-terminal region of the desmoplakin gene (DSP) are known to mainly cause Carvajal syndrome, an autosomal recessive syndromic form of arrhythmogenic cardiomyopathy with an extra-cardiac cutaneous phenotype. CASE PRESENTATION: Here we describ...

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Detalles Bibliográficos
Autores principales: Pantou, Malena P., Gourzi, Polyxeni, Vlagkouli, Vasiliki, Papatheodorou, Efstathios, Tsoutsinos, Alexandros, Nyktari, Eva, Degiannis, Dimitrios, Anastasakis, Aris
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10158133/
https://www.ncbi.nlm.nih.gov/pubmed/37143080
http://dx.doi.org/10.1186/s12920-023-01527-6

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