Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the <i>NF1</i> gene-Reference-Cited by-同舟云学术

Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene

Published:2022-06-28 Issue:10 Volume:43 Page:1354-1360
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Stella Alessandro¹^ORCID,Lastella Patrizia²,Viggiano Luigi³^ORCID,Bagnulo Rosanna¹,Resta Nicoletta¹^ORCID

Affiliation:

1. Department of Biomedical Sciences and Human Oncology Laboratory of Medical Genetics, Università di Bari Aldo Moro Bari Italy

2. Rare Disease Center Internal MedicineUnit ‘C. Frugoni’, AOU Policlinico di Bari Bari Italy

3. Department of Biology University of Bari Aldo Moro Bari Italy

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24423

Reference28 articles.

1. In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification

2. Parental age and risk of genetic syndromes predisposing to nervous system tumors: nested case–control study

3. Homozygosity at variant MLH1 can lead to secondary mutation in NF1, neurofibromatosis type I and early onset leukemia

4. Neurofibromatosis-1gene deletions and mutations in de novo adult acute myeloid leukemia

5. Closely spaced multiple mutations as potential signatures of transient hypermutability in human genes

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1. The genetic spectrum ofNF1variants in 10 unrelated Chinese families with neurofibromatosis type 1;Neurosciences;2024-07

2. A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1;Human Genome Variation;2023-11-22

3. Nörofibromatozis Tip1’li Olgularda NF1 Geni Varyant Spektrumu: Tek Merkez Deneyimi;Celal Bayar Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi;2023-03-31