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Article

Phenotypic Spectrum of Neurofibromatosis Type 1 Patients in India and Low Prevalence of Microdeletions in NF1 Gene.

American journal of medical genetics. Part A - 1 Jun 2026

Kaur Ravneet, Chowdhury Madhumita Roy, Chauhan Sandeepa, Gupta Neerja, Kumar Atin, Sapra Savita, Saranya S Devi, Kabra Madhulika

Abstract excerpt

Neurofibromatosis type 1 (NF1) is a complex multisystem disorder with marked phenotypic heterogeneity and variable expressivity. While its clinical features have been extensively documented in Western populations, data from India remain limited and largely based on smaller cohorts. This study provides a comprehensive description of the NF1 phenotype in an Indian cohort of 72 patients. The study also explored the...

Topics

Humans
Neurofibromatosis 1
India
Phenotype
Neurofibromin 1
Male
Child
Child, Preschool
Female
Adolescent
Genes, Neurofibromatosis 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Adult

Prevalence

Infant

Young Adult

Gene Deletion

Source

Identifiers

PMID: 41641655
DOI: 10.1002/ajmga.70073

Genes

NF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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