↓ Skip to main content

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

Overview of attention for article published in Orphanet Journal of Rare Diseases, June 2014
Altmetric Badge

About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (53rd percentile)
  • Average Attention Score compared to outputs of the same age and source

Mentioned by

twitter
2 tweeters

Citations

dimensions_citation
50 Dimensions

Readers on

mendeley
69 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations
Published in
Orphanet Journal of Rare Diseases, June 2014
DOI 10.1186/1750-1172-9-84
Pubmed ID
Abstract

Amelogenesis imperfecta (AI) is a genetically and clinically heterogeneous group of inherited dental enamel defects. Commonly described as an isolated trait, it may be observed concomitantly with other orodental and/or systemic features such as nephrocalcinosis in Enamel Renal Syndrome (ERS, MIM#204690), or gingival hyperplasia in Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome (AIGFS, MIM#614253). Patients affected by ERS/AIGFS present a distinctive orodental phenotype consisting of generalized hypoplastic AI affecting both the primary and permanent dentition, delayed tooth eruption, pulp stones, hyperplastic dental follicles, and gingival hyperplasia with variable severity and calcified nodules. Renal exam reveals a nephrocalcinosis which is asymptomatic in children affected by ERS. FAM20A recessive mutations are responsible for both syndromes. We suggest that AIGFS and ERS are in fact descriptions of the same syndrome, but that the kidney phenotype has not always been investigated fully in AIGFS. The aim of this review is to highlight the distinctive and specific orodental features of patients with recessive mutations in FAM20A. We propose ERS to be the preferred term for all the phenotypes arising from recessive FAM20A mutations. A differential diagnosis has to be made with other forms of AI, isolated or syndromic, where only a subset of the clinical signs may be shared. When ERS is suspected, the patient should be assessed by a dentist, nephrologist and clinical geneticist. Confirmed cases require long-term follow-up. Management of the orodental aspects can be extremely challenging and requires the input of multi-disciplinary specialized dental team, especially when there are multiple unerupted teeth.

Twitter Demographics

The data shown below were collected from the profiles of 2 tweeters 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 69 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 69 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 13 19%
Student > Doctoral Student 11 16%
Student > Postgraduate 7 10%
Student > Bachelor 6 9%
Student > Ph. D. Student 5 7%
Other 11 16%
Unknown 16 23%
Readers by discipline Count As %
Medicine and Dentistry 36 52%
Agricultural and Biological Sciences 6 9%
Biochemistry, Genetics and Molecular Biology 2 3%
Psychology 2 3%
Nursing and Health Professions 2 3%
Other 7 10%
Unknown 14 20%

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 17 June 2014.
All research outputs
#6,705,582
of 11,338,088 outputs
Outputs from Orphanet Journal of Rare Diseases
#774
of 1,237 outputs
Outputs of similar age
#85,237
of 185,641 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#27
of 44 outputs
Altmetric has tracked 11,338,088 research outputs across all sources so far. This one is in the 40th percentile – i.e., 40% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,237 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.8. This one is in the 37th percentile – i.e., 37% 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 185,641 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 53% of its contemporaries.
We're also able to compare this research output to 44 others from the same source and published within six weeks on either side of this one. This one is in the 38th percentile – i.e., 38% of its contemporaries scored the same or lower than it.