ArticleMolecular biology reports2019
Clinical and molecular characteristics of thirty NF1 variants in Chinese patients with neurofibromatosis type 1.
Article in Molecular biology reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
4 citing papers in PubMed.
- Case Report: SomaticFrontiers in oncology · 2026Article
- The genetic spectrum ofNeurosciences (Riyadh, Saudi Arabia) · 2024Article
- Identification of novelExperimental and therapeutic medicine · 2024Article
- Molecular Diagnosis of Neurofibromatosis by Multigene Panel Testing.Frontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
Neurofibromatosis type 1 (NF1) is a common autosomal dominant tumor-predisposition disorder that mainly impacts the nervous system and skin. Since the full clinical presentation of NF1 depends on age, it can be difficult to make an early and definite diagnosis in paediatric patients without family history who only exhibited multiple cafè-au-lait spots, highlighting the need for mutational analysis. A combination of techniques was conducted in 30 families with NF1, including multi-gene panels, direct sequencing, cDNA sequencing and multiplex ligation-dependent probe amplification. Thirty variants were identified in 36 patients from the 30 families, among which ten variants were novel. As a result, we confirmed that the combination of techniques were highly accurate and sensitive for identifying pathogenic variants in patients clinically suspected of having NF1, in particular, for patients who only present with multiple cafè-au-lait spots.
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