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X Demographics
Mendeley readers
Attention Score in Context
Title |
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome
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Published in |
Orphanet Journal of Rare Diseases, April 2014
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DOI | 10.1186/1750-1172-9-53 |
Pubmed ID | |
Authors |
Vanessa A van Rahden, Isabella Rau, Sigrid Fuchs, Friederike K Kosyna, Hiram Larangeira de Almeida, Helen Fryssira, Bertrand Isidor, Anna Jauch, Madeleine Joubert, Augusta M A Lachmeijer, Christiane Zweier, Ute Moog, Kerstin Kutsche |
Abstract |
Segmental Xp22.2 monosomy or a heterozygous HCCS mutation is associated with the microphthalmia with linear skin defects (MLS) or MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome, an X-linked disorder with male lethality. HCCS encodes the holocytochrome c-type synthase involved in mitochondrial oxidative phosphorylation (OXPHOS) and programmed cell death. |
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 % |
---|---|---|
Mexico | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 24 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 24 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 9 | 38% |
Researcher | 4 | 17% |
Other | 3 | 13% |
Student > Master | 2 | 8% |
Student > Bachelor | 1 | 4% |
Other | 1 | 4% |
Unknown | 4 | 17% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 10 | 42% |
Biochemistry, Genetics and Molecular Biology | 5 | 21% |
Agricultural and Biological Sciences | 3 | 13% |
Immunology and Microbiology | 1 | 4% |
Engineering | 1 | 4% |
Other | 0 | 0% |
Unknown | 4 | 17% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. 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 18 April 2014.
All research outputs
#14,194,875
of 22,753,345 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,559
of 2,610 outputs
Outputs of similar age
#120,140
of 226,666 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#14
of 27 outputs
Altmetric has tracked 22,753,345 research outputs across all sources so far. This one is in the 35th percentile – i.e., 35% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,610 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.5. This one is in the 36th percentile – i.e., 36% 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 226,666 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 44th percentile – i.e., 44% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 27 others from the same source and published within six weeks on either side of this one. This one is in the 37th percentile – i.e., 37% of its contemporaries scored the same or lower than it.