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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation
|
|---|---|
| Published in |
BMC Medical Genomics, November 2017
|
| DOI | 10.1186/s12881-017-0483-7 |
| Pubmed ID | |
| Authors |
Paulo Breno Noronha Liberalesso, Mara L. Cordeiro, Simone Carreiro Vieira Karuta, Karyn Regina Jordão Koladicz, Anderson Nitsche, Bianca Simone Zeigelboim, Salmo Raskin, Michael Rauchman |
| Abstract |
Townes-Brocks syndrome (TBS) is a rare autosomal dominant condition characterized by renal, anal, limb, and auditory abnormalities. TBS diagnosis can be challenging in settings where genetic analysis is not readily available. TBS traits overlap with those of Goldenhar and VACTERL syndromes. Here, we present the case of a 5-year-old Brazilian boy born with an anorectal abnormality, limb and external ears malformations, genitourinary anomalies, and a congenital heart defect. Genetic analysis revealed a SALL1 nonsense mutation. The case is discussed in the context of the current literature. Because of the variability in TBS clinical presentation, genetic analysis is key to the differential diagnosis of TBS relative to phenotypically similar syndromes. |
X Demographics
The data shown below were collected from the profiles of 3 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 33% |
| United States | 1 | 33% |
| Unknown | 1 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 67% |
| Practitioners (doctors, other healthcare professionals) | 1 | 33% |
Mendeley readers
The data shown below were compiled from readership statistics for 48 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 48 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 6 | 13% |
| Student > Bachelor | 5 | 10% |
| Researcher | 4 | 8% |
| Student > Doctoral Student | 3 | 6% |
| Lecturer | 2 | 4% |
| Other | 7 | 15% |
| Unknown | 21 | 44% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 15 | 31% |
| Biochemistry, Genetics and Molecular Biology | 4 | 8% |
| Nursing and Health Professions | 4 | 8% |
| Agricultural and Biological Sciences | 2 | 4% |
| Arts and Humanities | 1 | 2% |
| Other | 0 | 0% |
| Unknown | 22 | 46% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. 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 26 October 2020.
All research outputs
#14,283,318
of 25,382,440 outputs
Outputs from BMC Medical Genomics
#854
of 2,444 outputs
Outputs of similar age
#161,707
of 342,377 outputs
Outputs of similar age from BMC Medical Genomics
#11
of 40 outputs
Altmetric has tracked 25,382,440 research outputs across all sources so far. This one is in the 43rd percentile – i.e., 43% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one has gotten more attention than average, scoring higher than 64% 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 342,377 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 52% of its contemporaries.
We're also able to compare this research output to 40 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 72% of its contemporaries.