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Article

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

BMC cardiovascular disorders - 23 Apr 2024

Pourirahim Maryam, Houshmand Golnaz, Abdolkarimi Leyla, Maleki Majid, Kalayinia Samira

Abstract excerpt

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 (WES) on an Iranian patient with NF1 to identify the genetic cause of the disease. METHODS: Following clinical assessment, WES...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38654147
DOI: 10.1186/s12872-024-03878-z
PMCID: PMC11036766

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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