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Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome

Overview of attention for article published in American Journal of Medical Genetics. Part A, November 2004
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Title
Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome
Published in
American Journal of Medical Genetics. Part A, November 2004
DOI 10.1002/ajmg.a.30366
Pubmed ID
Authors

Andreas Zankl, Gudrun Jaeger, Luisa Bonafé, Eugen Boltshauser, Andrea Superti‐Furga

Abstract

Mutations in the fibroblast growth factor receptor 2 (FGFR2) cause a variety of craniosynostosis syndromes. The mutational spectrum tends to be narrow with the majority of mutations occurring in either exon IIIa or IIIc or in the intronic sequence preceding exon IIIc. Mutations outside of this hotspot are uncommon and the few identified mutations have demonstrated wide clinical variability, making it difficult to establish a clear-cut genotype-phenotype correlation. To better delineate the clinical picture associated with these unusual mutations, we describe a severely affected patient with Pfeiffer syndrome and a missense mutation in the tyrosine kinase (TK) domain of FGFR2.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 13 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 13 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 3 23%
Researcher 3 23%
Other 2 15%
Student > Master 2 15%
Unknown 3 23%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 6 46%
Mathematics 1 8%
Agricultural and Biological Sciences 1 8%
Medicine and Dentistry 1 8%
Chemistry 1 8%
Other 0 0%
Unknown 3 23%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 27 September 2012.
All research outputs
#22,759,802
of 25,374,917 outputs
Outputs from American Journal of Medical Genetics. Part A
#3,684
of 4,208 outputs
Outputs of similar age
#72,869
of 74,696 outputs
Outputs of similar age from American Journal of Medical Genetics. Part A
#24
of 26 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 4,208 research outputs from this source. They receive a mean Attention Score of 4.3. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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 74,696 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 26 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.