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Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion

Overview of attention for article published in BMC Pediatrics, September 2014
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Title
Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion
Published in
BMC Pediatrics, September 2014
DOI 10.1186/1471-2431-14-220
Pubmed ID
Authors

Lucia Margari, Annalisa Colonna, Francesco Craig, Mattia Gentile, Giustina Giannella, Anna Linda Lamanna, Anna Rosi Legrottaglie

Abstract

Microphthalmia with linear skin defects (MLS) syndrome is a rare X-linked dominant male-lethal developmental disorder characterized by unilateral or bilateral microphthalmia and linear skin defects of the face and neck. Additional features affecting the eyes, heart, brain or genitourinary system can occur, corroborating the intra- and interfamilial phenotypic variability. The majority of patients display monosomy of the Xp22.2 region, where the holocytochrome c-type synthase (HCCS) gene is located.

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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.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 58 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 58 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 9 16%
Student > Master 7 12%
Researcher 7 12%
Student > Ph. D. Student 6 10%
Student > Postgraduate 5 9%
Other 10 17%
Unknown 14 24%
Readers by discipline Count As %
Medicine and Dentistry 13 22%
Psychology 6 10%
Biochemistry, Genetics and Molecular Biology 5 9%
Nursing and Health Professions 5 9%
Neuroscience 3 5%
Other 9 16%
Unknown 17 29%
Attention Score in Context

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 03 September 2014.
All research outputs
#20,235,415
of 22,761,738 outputs
Outputs from BMC Pediatrics
#2,586
of 2,992 outputs
Outputs of similar age
#198,838
of 237,378 outputs
Outputs of similar age from BMC Pediatrics
#48
of 62 outputs
Altmetric has tracked 22,761,738 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,992 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.6. This one is in the 1st percentile – i.e., 1% 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 237,378 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 62 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.