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Mendeley readers
Attention Score in Context
| Title |
Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report
|
|---|---|
| Published in |
BMC Medical Genomics, May 2016
|
| DOI | 10.1186/s12881-016-0298-y |
| Pubmed ID | |
| Authors |
Viviana Karina Dalamón, Paula Buonfiglio, Margarita Larralde, Patricio Craig, Vanesa Lotersztein, Keith Choate, Norma Pallares, Vicente Diamante, Ana Belén Elgoyhen |
| Abstract |
Keratitis-Ichthyosis-Deafness (KID) syndrome is a rare condition characterized by pre-lingual sensorineural deafness with skin hyperkeratinization. The primary cause of the disease is a loss-of-function mutation in the GJB2 gene. Mutations in Argentinean patients have not been described. We studied a 2 year-old boy with bilateral congenital sensorineural deafness with dry skin over the entire body, hypotrichosis of the scalp, thin and light-blond hair. Analysis of the GJB2 gene nucleotide sequence revealed the substitution of guanine-148 by adenine predicted to result in an Asp50Asn amino acid substitution. This is the first KID report in a patient from Argentina. This de novo mutation proved to be the cause of keratitis-ichthyosis-deafness syndrome (KID-syndrome) in the patient, and has implications in medical genetic practice. |
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.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 34 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 34 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 7 | 21% |
| Unspecified | 5 | 15% |
| Student > Master | 3 | 9% |
| Student > Bachelor | 2 | 6% |
| Student > Doctoral Student | 2 | 6% |
| Other | 4 | 12% |
| Unknown | 11 | 32% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 8 | 24% |
| Unspecified | 5 | 15% |
| Medicine and Dentistry | 5 | 15% |
| Nursing and Health Professions | 2 | 6% |
| Social Sciences | 1 | 3% |
| Other | 1 | 3% |
| Unknown | 12 | 35% |
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 12 May 2016.
All research outputs
#20,656,820
of 25,374,917 outputs
Outputs from BMC Medical Genomics
#1,682
of 2,444 outputs
Outputs of similar age
#232,568
of 312,453 outputs
Outputs of similar age from BMC Medical Genomics
#17
of 30 outputs
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So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one is in the 17th percentile – i.e., 17% of its peers scored the same or lower than it.
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We're also able to compare this research output to 30 others from the same source and published within six weeks on either side of this one. This one is in the 23rd percentile – i.e., 23% of its contemporaries scored the same or lower than it.