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Noonan syndrome

Overview of attention for article published in Orphanet Journal of Rare Diseases, January 2007
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (93rd percentile)
  • High Attention Score compared to outputs of the same age and source (92nd percentile)

Mentioned by

blogs
1 blog
twitter
1 X user
facebook
1 Facebook page
wikipedia
1 Wikipedia page

Citations

dimensions_citation
300 Dimensions

Readers on

mendeley
292 Mendeley
citeulike
2 CiteULike
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Title
Noonan syndrome
Published in
Orphanet Journal of Rare Diseases, January 2007
DOI 10.1186/1750-1172-2-4
Pubmed ID
Authors

Ineke van der Burgt

Abstract

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.

X Demographics

X Demographics

The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 292 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Japan 2 <1%
Ghana 1 <1%
United Kingdom 1 <1%
Brazil 1 <1%
Spain 1 <1%
Mexico 1 <1%
Unknown 285 98%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 41 14%
Student > Master 31 11%
Researcher 29 10%
Student > Ph. D. Student 25 9%
Student > Postgraduate 23 8%
Other 56 19%
Unknown 87 30%
Readers by discipline Count As %
Medicine and Dentistry 117 40%
Biochemistry, Genetics and Molecular Biology 30 10%
Agricultural and Biological Sciences 22 8%
Nursing and Health Professions 9 3%
Psychology 4 1%
Other 10 3%
Unknown 100 34%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 12. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 10 April 2017.
All research outputs
#2,636,993
of 22,758,963 outputs
Outputs from Orphanet Journal of Rare Diseases
#336
of 2,611 outputs
Outputs of similar age
#10,255
of 159,265 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#1
of 13 outputs
Altmetric has tracked 22,758,963 research outputs across all sources so far. Compared to these this one has done well and is in the 88th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,611 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.5. This one has done well, scoring higher than 87% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 159,265 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 93% of its contemporaries.
We're also able to compare this research output to 13 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 92% of its contemporaries.