ArticleBMC pediatrics2020
Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1-58 deletion: a case report.
Article in BMC pediatrics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 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
- 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
- Genetic conditions of short stature: A review of three classic examples.Frontiers in endocrinology · 2022Review
- Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
backgroundNeurofibromatosis-Noonan syndrome (NFNS) is a rare autosomal dominant hereditary disease. We present a case of NFNS due to the heterozygous deletion of exons 1-58 of the NF1 gene on chromosome 17 in a 15-month-old boy. CASE PRESENTATION: A 15-month-old boy was admitted for motor and language developmental delay, numerous café-au-lait spots, hypertelorism, left blepharoptosis, pectus excavatum, cryptorchidism, secondary atrial septal defect, and UBOs (undefined bright objects) revealed by cranial MRI T2FLAIR in basal ganglia and cerebellum. Using whole exome sequencing, we identified a de novo heterozygous deletion including exons 1-58 of the NF1 gene.
conclusionAlthough genetic tests are useful tools for diagnosis of NFNS, NF1, or NS, comprehensive analysis of genetic factors and phenotypes is indispensable in the clinical practice. To the best of our knowledge, this case presents the first Chinese NFNS case due to NF1 defects, and the NF1 exons 1-58 deletion-related phenotype is unlike any other reported case.
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