| Title |
Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series
|
|---|---|
| Published in |
Journal of Medical Case Reports, April 2013
|
| DOI | 10.1186/1752-1947-7-117 |
| Pubmed ID | |
| Authors |
Elizabeth Bygarski, Melanie Paterson, Edmond G Lemire |
| Abstract |
Congenital central hypoventilation syndrome is an autosomal dominant disorder that classically presents as sudden death in infancy secondary to central hypoventilation. Most cases are caused by polyalanine repeat mutations in the paired-like homeobox 2B gene, PHOX2B. More severe disease is typically associated with nonpolyalanine repeat mutations. We report the case of a family with nonpolyalanine repeat mutations that uncharacteristically has many individuals who were mildly symptomatic and only diagnosed after genetic testing. We highlight the highly variable clinical presentation of this condition and the need for clinicians to remain vigilant. |
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 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Italy | 1 | 6% |
| Unknown | 17 | 94% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 3 | 17% |
| Student > Postgraduate | 3 | 17% |
| Student > Master | 2 | 11% |
| Student > Bachelor | 2 | 11% |
| Professor > Associate Professor | 2 | 11% |
| Other | 1 | 6% |
| Unknown | 5 | 28% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 6 | 33% |
| Veterinary Science and Veterinary Medicine | 1 | 6% |
| Nursing and Health Professions | 1 | 6% |
| Biochemistry, Genetics and Molecular Biology | 1 | 6% |
| Agricultural and Biological Sciences | 1 | 6% |
| Other | 1 | 6% |
| Unknown | 7 | 39% |
Attention Score in Context
This research output has an Altmetric Attention Score of 4. 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 29 August 2020.
All research outputs
#6,763,704
of 22,708,120 outputs
Outputs from Journal of Medical Case Reports
#532
of 3,890 outputs
Outputs of similar age
#57,100
of 194,058 outputs
Outputs of similar age from Journal of Medical Case Reports
#9
of 42 outputs
Altmetric has tracked 22,708,120 research outputs across all sources so far. This one has received more attention than most of these and is in the 69th percentile.
So far Altmetric has tracked 3,890 research outputs from this source. They receive a mean Attention Score of 3.9. This one has done well, scoring higher than 86% 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 194,058 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 70% of its contemporaries.
We're also able to compare this research output to 42 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 78% of its contemporaries.