The Surprises of Molecular Testing in Neurofibromatosis Type 1: Rare Association between Two Mutational Variants

Author:

Jurca Aurora,Petchesi Codruta Diana,Jurca Maria Claudia,Bembea Dan,Jurca Alexandru Daniel,Atasie Diter

Publisher

Polaris

Reference48 articles.

1. Friedman JM. Neurofibromatosis 1. 1998 Oct 2 [updated 2022 Apr 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1109/.

2. Jurca CM, Kozma K, Petchesi CD, Zaha DC, Magyar I, Munteanu M, et al. Tuberous sclerosis, type II diabetes mellitus and the PI3K/AKT/mTOR signaling pathways-case report and literature review. Genes (Basel). 2023;14(2):433. doi:10.3390/genes14020433

3. Yoshida Y. Neurofibromatosis 1 (von Recklinghausen Disease). Keio J Med. 2023. doi:10.2302/kjm.2023-0013-IR

4. Adil A, Koritala T, Munakomi S, Singh AK. Neurofibromatosis type 1. 2023. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024.

5. Farschtschi S, Mautner VF, McLean ACL, Schulz A, Friedrich RE, Rosahl SK. The neurofibromatoses. Dtsch Arztebl Int. 2020;117(20):354-60. doi:10.3238/arztebl.2020.0354

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