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X Demographics
Mendeley readers
Attention Score in Context
| Title |
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan‐like syndrome individual: Broadening the clinical phenotype
|
|---|---|
| Published in |
American Journal of Medical Genetics. Part A, February 2017
|
| DOI | 10.1002/ajmg.a.38070 |
| Pubmed ID | |
| Authors |
Débora Bertola, Guilherme Yamamoto, Michelle Buscarilli, Alexander Jorge, Maria Rita Passos‐Bueno, Chong Kim |
| Abstract |
We report on a 12-year-old Brazilian boy with the p.Pro49Arg mutation in PPP1CB, a novel gene associated with RASopathies. This is the fifth individual described, and the fourth presenting the same variant, suggesting a mutational hotspot. Phenotypically, he also showed the same hair pattern-sparse, thin, and with slow growing-, similar to the typical ectodermal finding observed in Noonan syndrome-like disorder with loose anagen hair. Additionally, he presented craniosynostosis, a rare clinical finding in RASopathies. This report gives further support that this novel RASopathy-PPP1CB-related Noonan syndrome with loose anagen hair-shares great similarity to Noonan syndrome-like disorder with loose anagen hair, and expands the phenotypic spectrum by adding the cranial vault abnormality. © 2017 Wiley Periodicals, Inc. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Saudi Arabia | 1 | 50% |
| Italy | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Practitioners (doctors, other healthcare professionals) | 1 | 50% |
| Members of the public | 1 | 50% |
Mendeley readers
The data shown below were compiled from readership statistics for 23 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 23 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 3 | 13% |
| Student > Bachelor | 2 | 9% |
| Other | 2 | 9% |
| Professor | 2 | 9% |
| Student > Ph. D. Student | 2 | 9% |
| Other | 4 | 17% |
| Unknown | 8 | 35% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 5 | 22% |
| Biochemistry, Genetics and Molecular Biology | 3 | 13% |
| Agricultural and Biological Sciences | 2 | 9% |
| Nursing and Health Professions | 1 | 4% |
| Linguistics | 1 | 4% |
| Other | 1 | 4% |
| Unknown | 10 | 43% |
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 22 February 2017.
All research outputs
#17,568,405
of 25,756,911 outputs
Outputs from American Journal of Medical Genetics. Part A
#2,390
of 4,234 outputs
Outputs of similar age
#210,917
of 323,276 outputs
Outputs of similar age from American Journal of Medical Genetics. Part A
#32
of 75 outputs
Altmetric has tracked 25,756,911 research outputs across all sources so far. This one is in the 21st percentile – i.e., 21% of other outputs scored the same or lower than it.
So far Altmetric has tracked 4,234 research outputs from this source. They receive a mean Attention Score of 4.3. This one is in the 33rd percentile – i.e., 33% 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 323,276 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 26th percentile – i.e., 26% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 75 others from the same source and published within six weeks on either side of this one. This one is in the 48th percentile – i.e., 48% of its contemporaries scored the same or lower than it.