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Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation

Overview of attention for article published in BMC Medical Genetics, November 2017
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Mentioned by

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1 tweeter

Citations

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1 Dimensions

Readers on

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15 Mendeley
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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 Genetics, 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.

Twitter Demographics

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

Mendeley readers

The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 15 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 4 27%
Student > Postgraduate 2 13%
Researcher 2 13%
Student > Doctoral Student 2 13%
Student > Bachelor 1 7%
Other 2 13%
Unknown 2 13%
Readers by discipline Count As %
Medicine and Dentistry 6 40%
Biochemistry, Genetics and Molecular Biology 4 27%
Nursing and Health Professions 1 7%
Agricultural and Biological Sciences 1 7%
Unspecified 1 7%
Other 0 0%
Unknown 2 13%

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 19 November 2017.
All research outputs
#7,598,237
of 12,159,148 outputs
Outputs from BMC Medical Genetics
#362
of 717 outputs
Outputs of similar age
#186,779
of 335,743 outputs
Outputs of similar age from BMC Medical Genetics
#13
of 54 outputs
Altmetric has tracked 12,159,148 research outputs across all sources so far. This one is in the 23rd percentile – i.e., 23% of other outputs scored the same or lower than it.
So far Altmetric has tracked 717 research outputs from this source. They receive a mean Attention Score of 2.8. This one is in the 40th percentile – i.e., 40% 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 335,743 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 34th percentile – i.e., 34% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 54 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 68% of its contemporaries.