ArticleClinical genetics2006
Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.
Article in Clinical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Portraying the full picture of Neurofibromatosis-Noonan syndrome: a systematic review of literature.Journal of medical genetics · 2025Pooled it
- Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review.Orphanet journal of rare diseases · 2025Review
- Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype.Frontiers in genetics · 2024Article
- A Novel HeterozygousJournal of clinical research in pediatric endocrinology · 2023Article
- Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene.Human genomics · 2023Article
- LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.BMC medical genomics · 2022Review
- Juvenile xanthogranuloma in Noonan syndrome.American journal of medical genetics. Part A · 2021Article
- Prevalence, Type, and Molecular Spectrum ofGenes · 2019Article
- OneGenes · 2019Article
- The Ras Superfamily of Small GTPases in Non-neoplastic Cerebral Diseases.Frontiers in molecular neuroscience · 2019Review
- Recent Advances in the Diagnosis and Pathogenesis of Neurofibromatosis Type 1 (NF1)-associated Peripheral Nervous System Neoplasms.Advances in anatomic pathology · 2018Review
- Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.European journal of human genetics : EJHG · 2013Article
- The RASopathies.Annual review of genomics and human genetics · 2013Review
- Neurofibromatosis type 1 (NF1) associated with tumor of the corpus callosum.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2012Article
- SPRED 1 mutations in a neurofibromatosis clinic.Journal of child neurology · 2010Article
- NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1.American journal of medical genetics. Part A · 2010Article
- Leopard syndrome.Orphanet journal of rare diseases · 2008Review
- An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.American journal of human genetics · 2007Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Neurofibromatosis-Noonan syndrome (NFNS) has been described as a unique phenotype, combining manifestations of neurofibromatosis type 1 (NF1) and Noonan syndrome, which are separate syndromes. Potential etiologies of NFNS include a discrete syndrome of distinct etiology, co-segregation of two mutated common genes, variable clinical expressivity of NF1, and/or allelic heterogeneity. We present an informative family with an unusual NF1 mutation with variable features of NF1 and Noonan syndrome. We hypothesize that an NF1 mutant allele can lead to diagnostic manifestations of Noonan syndrome, supporting the hypothesis that NF1 allelic heterogeneity causes NFNS.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.