Two Different<i>NF1</i>Pathogenic Variants in a Family With Neurofibromatosis Type 1
Two different NF1-variants in one family is an extremely rare phenomenon: yet its occurrence is not impossible and therefore should be considered in genetic diagnosis and counselling. For an offspring with the indication for neurofibromatosis type 1, but lacking the familial pathogenic variant, a screening of the whole NF1-gene is necessary to detect potential new pathogenic variants and for exact diagnosis.
Authors
- Lan Kluwe (ORCID: https://orcid.org/0000-0001-9919-4551)
- Said Farschtschi (ORCID: https://orcid.org/0000-0002-3596-5932)
- Reinhard E. Friedrich (ORCID: https://orcid.org/0000-0001-7747-9636)
- Thomas Härtung (ORCID: https://orcid.org/0000-0003-1359-7689)
Institutions
- Universität Hamburg (DE)
- University Medical Center Hamburg-Eppendorf (DE)
Publication Details
- Journal
- Cancer Genomics & Proteomics
- Published
- 2024-12-27
- DOI
- https://doi.org/10.21873/cgp.20485
- Citations
- 1
- Primary Topic
- Neurofibromatosis and Schwannoma Cases
- Type
- article
- Field-Weighted Citation Impact
- 0.37
Funders
- Universitätsklinikum Hamburg-Eppendorf