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Boltshauser, Eugen; Stocker, H; Mächler, Marco (1989). Neurofibromatosis type 1 in a child of a parent with segmental neurofibromatosis (NF-5). Neurofibromatosis, 2(4):244-5.
Neurofibromatosis type 1 (NF-1) was incidentally diagnosed in a 1-year-old girl. Her father was found to show the cutaneous signs of segmental neurofibromatosis (NF-5). This observation supports the possibility that subjects with NF-5 can transmit NF-1 to their offsprings in some cases, which has to be considered in genetic counseling.
| Item Type: | Journal Article, not_refereed, original work |
|---|---|
| Communities & Collections: | 04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
04 Faculty of Medicine > Institute of Medical Genetics |
| Dewey Decimal Classification: | 610 Medicine & health
570 Life sciences; biology |
| Scopus Subject Areas: | Health Sciences > Neurology (clinical) |
| Uncontrolled Keywords: | Genetics, Genetics (clinical), Neurofibromatosis 1 |
| Language: | English |
| Date: | 1989 |
| Deposited On: | 02 Nov 2023 12:00 |
| Last Modified: | 25 Mar 2025 04:41 |
| Publisher: | Karger |
| ISSN: | 1010-5662 |
| OA Status: | Closed |
| PubMed ID: | 2517819 |
| Other Identification Number: | Corpus ID: 9658895 |
Boltshauser, Eugen