A Comprehensive Overview of NF1 Mutations in Iranian Patients.

doi:10.1007/s12017-024-08790-5

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A Comprehensive Overview of NF1 Mutations in Iranian Patients.

Neuromolecular medicine - 2 Jul 2024

Savad Shahram, Modarressi Mohammad-Hossein, Younesi Sarang, Seifi-Alan Mahnaz, Samadaian Niusha, Masoomy Mona, Dianatpour Mehdi, Norouzi Shima, Amidi Saloomeh, Boroumand Amirreza, Ashrafi Mahmoud Reza, Ronagh Alireza, Eslami Maryam, Hashemnejad Maryam, Nourian Shahab, Mohammadi Sanaz, Taheri Amin Mohammad Mahdi, Heidari Morteza, Seifi-Alan Mahin, Shojaaldini Ardakani Hossein, Aghamahdi Fatemeh, Khalilian Sheyda, Ghafouri-Fard Soudeh

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in the NF1 gene. This disorder shows nearly complete penetrance and high phenotypic variability. We used the whole-exome sequencing technique to identify mutations in 32 NF1 cases from 22 Iranian families. A total of 31 variants, including 30 point mutations and one large deletion, were detected. In eight cases, variants were inherited,...

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PMID: 38954284
DOI: 10.1007/s12017-024-08790-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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