Gonadal and gonadosomatic mosaicism in NF1: report of two families-Reference-Cited by-同舟云学术

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Gonadal and gonadosomatic mosaicism in NF1: report of two families

Published:2024-01-07 Issue:3 Volume:22 Page:426-428
ISSN:1610-0379
Container-title:JDDG: Journal der Deutschen Dermatologischen Gesellschaft
language:en
Short-container-title:J Deutsche Derma Gesell

Author:

Seidl‐Philipp Magdalena¹^ORCID,Veyt Nathalie²,Schnaiter Simon³,Krogsdam Anne⁴⁵,Schwendinger Simon³,Maertens Ophélia⁶,Fauth Christine³,Schmuth Matthias¹,Legius Eric²,Wimmer Katharina³,Brems Hilde²

Affiliation:

1. Department of Dermatology Medical University Innsbruck Innsbruck Austria

2. Department of Human Genetics Catholic University Leuven Leuven Belgium

3. Institute of Human Genetics Medical University Innsbruck Innsbruck Austria

4. Division of Bioinformatics, Biocenter Medical University Innsbruck Innsbruck Austria

5. GenomeSeq Core, Biocenter Medical University Innsbruck Innsbruck Austria

6. Department of Medicine, Division of Genetics Brigham and Women's Hospital Boston Massachusetts USA

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ddg.15302

Reference11 articles.

1. The neurofibromatoses;Farschtschi S;Dtsch Arztebl Int,2020

2. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

3. Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk

4. A six-attribute classification of geneticmosaicism

5. Mosaic Neurofibromatosis Type 1: A Systematic Review

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