The DOI matches its Crossref record; 26 of the 26 references it cites were found in a registry or an index.
Noonan syndrome
Open accessAbstract
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
Tartaglia, M., Mehler, E. L., Goldberg, R., Zampino, G., Brunner, H. G., Kremer, H., van der Burgt, I., Crosby, A. H., Ion, A., Jeffery, S., et al. (2001) · Nature Genetics · doi:10.1038/ng772 · Cited by 1,733
Self-citationThe ‘Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling
Neel, B. G., Gu, H., & Pao, L. (2003) · Trends in Biochemical Sciences · doi:10.1016/s0968-0004(03)00091-4 · Cited by 1,249
Germline KRAS mutations cause Noonan syndrome
Schubbert, S., Zenker, M., Rowe, S. L., Böll, S., Klein, C., Bollag, G., van der Burgt, I., Musante, L., Kalscheuer, V., Wehner, L.-E., et al. (2006) · Nature Genetics · doi:10.1038/ng1748 · Cited by 730
A clinical study of Noonan syndrome.
Sharland, M., Burch, M., McKenna, W. M., & Paton, M. A. (1992) · Archives of Disease in Childhood · doi:10.1136/adc.67.2.178 · Cited by 475
NOONAN SYNDROME AND RELATED DISORDERS: Genetics and Pathogenesis
Tartaglia, M., & Gelb, B. D. (2005) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.6.080604.162305 · Cited by 355
Allanson, J. E. (1987) · Journal of Medical Genetics · doi:10.1136/jmg.24.1.9 · Cited by 319
Clinical and molecular studies in a large Dutch family with Noonan syndrome
Van Der Burgt, I., Berends, E., Lommen, E., Van Beersum, S., Hamel, B., & Mariman, E. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320530213 · Cited by 285
Self-citationMarino, B., Digilio, M. C., Toscano, A., Giannotti, A., & Dallapiccola, B. (1999) · The Journal of Pediatrics · doi:10.1016/s0022-3476(99)70088-0 · Cited by 258
Noonan syndrome: The changing phenotype
Allanson, J. E., Hall, J. G., Hughes, H. E., Preus, M., Witt, R. D., Opitz, J. M., & Reynolds, J. F. (1985) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320210313 · Cited by 239
Noonan syndrome: growth and clinical manifestations in 144 cases
Ranke, M. B., Heidemann, P., Knupfer, C., Enders, H., Schmaltz, A. A., & Bierich, J. R. (1988) · European Journal of Pediatrics · doi:10.1007/bf00441408 · Cited by 226
Cited by
Recent advances in RASopathies
Aoki, Y., Niihori, T., Inoue, S.-I., & Matsubara, Y. (2016) · Journal of Human Genetics · doi:10.1038/jhg.2015.114 · Cited by 373
Martinelli, S., De Luca, A., Stellacci, E., Rossi, C., Checquolo, S., Lepri, F., Caputo, V., Silvano, M., Buscherini, F., Consoli, F., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.06.015 · Cited by 259
Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade
Cesarini, L., Alfieri, P., Pantaleoni, F., Vasta, I., Cerutti, M., Petrangeli, V., Mariotti, P., Leoni, C., Ricci, D., Vicari, S., et al. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32488 · Cited by 98
Vissers, L. E., Bonetti, M., Paardekooper Overman, J., Nillesen, W. M., Frints, S. G. M., de Ligt, J., Zampino, G., Justino, A., Machado, J. C., Schepens, M., et al. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.115 · Cited by 75
Self-citation
Metadata
- Authors
- van der Burgt, I.
- Venue
- Orphanet Journal of Rare Diseases
- Published
- 2007-01-14
- Volume
- 2
- Issue
- 1
- Pages
- 4-4
- ISSN
- 1750-1172 (ISSN-L)
- OpenAlex
- W3191443166
- Cited by
- 365
- References
- 26
- FWCI
- 5.39
- Type
- journal article
- Language
- en
- Open access
- gold
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Noonan syndrome. https://app.cochat.ai/papers/10.1186/1750-1172-2-4
- The paper
- van der Burgt, I. (2007). Noonan syndrome. Orphanet Journal of Rare Diseases. https://doi.org/10.1186/1750-1172-2-4
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
