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

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...

Source: BMC Cardiovascular Disorders - April 23, 2024 Category: Cardiology Authors: Maryam Pourirahim, Golnaz Houshmand, Leyla Abdolkarimi, Majid Maleki and Samira Kalayinia Tags: Research Source Type: research