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Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5)

Overview of attention for article published in BONE, November 2017
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  • Good Attention Score compared to outputs of the same age (67th percentile)
  • High Attention Score compared to outputs of the same age and source (81st percentile)

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2 X users
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1 Facebook page
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1 Wikipedia page

Citations

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21 Dimensions

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52 Mendeley
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Title
Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5)
Published in
BONE, November 2017
DOI 10.1016/j.bone.2017.11.012
Pubmed ID
Authors

Ghada A. Otaify, Michael P. Whyte, Gary S. Gottesman, William H. McAlister, J. Eric Gordon, Abby Hollander, Marisa V. Andrews, Samir K. El-Mofty, Wei-Shen Chen, Deborah V. Veis, Marina Stolina, Albert S. Woo, Panagiotis Katsonis, Olivier Lichtarge, Fan Zhang, Marwan Shinawi

Abstract

Gnathodiaphyseal dysplasia (GDD; OMIM #166260) is an ultra-rare autosomal dominant disorder caused by heterozygous mutation in the anoctamin 5 (ANO5) gene and features fibro-osseous lesions of the jawbones, bone fragility with recurrent fractures, and bowing/sclerosis of tubular bones. The physiologic role of ANO5 is unknown. We report a 5-year-old boy with a seemingly atypical and especially severe presentation of GDD and unique ANO5 mutation. Severe osteopenia was associated with prenatal femoral fractures, recurrent postnatal fractures, and progressive bilateral enlargement of his maxilla and mandible beginning at ~2months-of-age that interfered with feeding and speech and required four debulking operations. Histopathological analysis revealed benign fibro-osseous lesions resembling cemento-ossifying fibromas of the jaw without psammomatoid bodies. A novel, de novo, heterozygous, missense mutation was identified in exon 15 of ANO5 (c.1553G>A; p.Gly518Glu). Our findings broaden the phenotypic and molecular spectra of GDD. Fractures early in life with progressive facial swelling are key features. We assessed his response to a total of 7 pamidronate infusions commencing at age 15months. Additional reports must further elucidate the phenotype, explore any genotype-phenotype correlation, and evaluate treatments.

X Demographics

X Demographics

The data shown below were collected from the profiles of 2 X users 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 52 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 52 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 10%
Student > Postgraduate 5 10%
Student > Bachelor 4 8%
Student > Master 4 8%
Student > Doctoral Student 3 6%
Other 11 21%
Unknown 20 38%
Readers by discipline Count As %
Medicine and Dentistry 20 38%
Nursing and Health Professions 4 8%
Biochemistry, Genetics and Molecular Biology 2 4%
Social Sciences 1 2%
Philosophy 1 2%
Other 2 4%
Unknown 22 42%
Attention Score in Context

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 04 March 2021.
All research outputs
#7,780,614
of 25,382,440 outputs
Outputs from BONE
#1,100
of 4,328 outputs
Outputs of similar age
#140,935
of 445,582 outputs
Outputs of similar age from BONE
#11
of 59 outputs
Altmetric has tracked 25,382,440 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 4,328 research outputs from this source. They receive a mean Attention Score of 4.9. This one has gotten more attention than average, scoring higher than 74% 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 445,582 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 67% of its contemporaries.
We're also able to compare this research output to 59 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 81% of its contemporaries.