Whole-exome sequencing revealed a likely pathogenic variant in NF1 causing neurofibromatosis type I and Arrhythmogenic Cardiomyopathy

Whole-exome sequencing revealed a likely pathogenic variant in NF1 causing neurofibromatosis type I and Arrhythmogenic Cardiomyopathy

Abstract Background Neurofibromatosis type I (NF1) is a genetic disorder characterized by the tumor’s development in nerve tissue. Complications of NF1 can include pigmented lesions, skin neurofibromas, and heart problems such as cardiomyopathy. In this study, we performed whole-exome sequencing (WE...

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Bibliographic Details
Main Authors: Maryam Pourirahim, Golnaz Houshmand, Leyla Abdolkarimi, Majid Maleki, Samira Kalayinia
Format: Article
Language:English
Published: BMC 2024-04-01
Series:BMC Cardiovascular Disorders
Subjects:
Neurofibromatosis
Genetic
Variant
Cardiomyopathy
Arrhythmogenic cardiomyopathy
Online Access:https://doi.org/10.1186/s12872-024-03878-z

Internet

https://doi.org/10.1186/s12872-024-03878-z

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