Scientists hunt for genes that predict NF1 severity

NCT ID NCT00111384

First seen Nov 01, 2025 · Last updated May 10, 2026 · Updated 31 times

Summary

This study looks at genes in people with neurofibromatosis type 1 (NF1) to find out why some have more serious health problems than others. About 313 patients and their family members joined, providing blood samples, skin biopsies, and imaging scans. The goal is to identify genes that influence disease severity and to better understand rare NF1 features.

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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Contacts and locations

Locations

  • National Institutes of Health Clinical Center

    Bethesda, Maryland, 20892, United States

Conditions

Explore the condition pages connected to this study.