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Clinical and Molecular Profile of Neurofibromatosis Type 1 Patients Using Revised Diagnostic Criteria - A Retrospective Cohort Study.

Neurology India - 1 Nov 2024

Rekha A, Sanoop A V Muhammed, Das Sweta, Chapla Aaron, Srinageshwari Bhairavi, Barney Anitha, Arunachalam Gautham, Mohan Sony, Danda Sumita

Abstract excerpt

OBJECTIVE: To catalog and correlate the clinical features and mutational spectrum of neurofibromatosis type 1 (NF1) patients attending a tertiary care center in India. METHODS: NF1 patients with confirmed molecular diagnosis from 2014 to 2021 were included in the study. The molecular tests used for the diagnosis were exome sequencing, targeted gene sequencing, and Multiple Ligation Probe Assay. RESULTS: Forty-two...

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Humans
Neurofibromatosis 1
Male
Female
Retrospective Studies
Child
Adolescent
Adult
Mutation
Child, Preschool
Young Adult

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

India

Neurofibromin 1

Cohort Studies

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PMID: 39690988
DOI: 10.4103/ni.ni_744_22

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