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Neurofibromatosis type 1 in a child of a parent with segmental neurofibromatosis (NF-5)


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.

Abstract

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.

Abstract

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.

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Additional indexing

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:30 Mar 2024 04:48
Publisher:Karger
ISSN:1010-5662
OA Status:Closed
PubMed ID:2517819
Other Identification Number:Corpus ID: 9658895
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