ArticleHeliyon2024
Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort.
Article in Heliyon, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- A case of suspected neurofibromatosis type 1 in monozygotic 13-year-old twins with submucosal cleft palate.Radiology case reports · 2026Article
- Clinical Phenotypic Spectrum and Multisystem Burden in Neurofibromatosis Type 1: A Retrospective Regional Cohort Study.Biomedicines · 2026Article
- A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis.Frontiers in genetics · 2025Article
- Germline activating sequence variations in RASopathy spectrum genes: genotype-phenotype correlation in a North Indian cohort.Frontiers in genetics · 2025Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Neurofibromatosis type 1 (NF1) is a unique, highly penetrant neuro-cutaneous disorder with a wide range of manifestations. Though the clinical diagnosis of NF1 is straight forward, there can be other disorders which mimic NF1, especially its cutaneous features. Here we describe the clinical and mutation spectrum of a series of individuals whose primary diagnosis was NF1 or NF1 related disorders. Methods: We have screened 29 unrelated individuals who fulfilled the clinical criteria of NF1. Whole exome sequencing (WES) was done in all individuals except one with suspected microdeletion syndrome with NF1 in whom Cytogenetic microarray (CMA) was done. Results: Out of 29 suspected patients, 25 had germline pathogenic/likely pathogenic variants involving Conclusion: We hereby present the wide range of manifestations in different age groups and the mutation spectrum ranging from small scale variants to contiguous gene deletion syndromes involving
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