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Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report

Overview of attention for article published in BMC Medical Genomics, May 2017
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Title
Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report
Published in
BMC Medical Genomics, May 2017
DOI 10.1186/s12881-017-0419-2
Pubmed ID
Authors

Robert Hilbrands, Kathelijn Keymolen, Alex Michotte, Miriam Marichal, Filip Cools, Anieta Goossens, Peter In’t Veld, Jean De Schepper, Andrew Hattersley, Harry Heimberg

Abstract

Pancreatic agenesis is an extremely rare cause of neonatal diabetes mellitus and has enabled the discovery of several key transcription factors essential for normal pancreas and beta cell development. We report a case of a Caucasian female with complete pancreatic agenesis occurring together with semilobar holoprosencephaly (HPE), a more common brain developmental disorder. Clinical findings were later confirmed by autopsy, which also identified agenesis of the gallbladder. Although the sequences of a selected set of genes related to pancreas agenesis or HPE were wild-type, the patient's phenotype suggests a genetic defect that emerges early in embryonic development of brain, gallbladder and pancreas. Developmental defects of the pancreas and brain can occur together. Identifying the genetic defect may identify a novel key regulator in beta cell development.

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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 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 %
Professor 4 17%
Researcher 4 17%
Student > Master 3 13%
Student > Bachelor 2 8%
Other 2 8%
Other 2 8%
Unknown 7 29%
Readers by discipline Count As %
Medicine and Dentistry 8 33%
Biochemistry, Genetics and Molecular Biology 4 17%
Psychology 3 13%
Sports and Recreations 1 4%
Neuroscience 1 4%
Other 0 0%
Unknown 7 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 21 July 2017.
All research outputs
#19,951,180
of 25,382,440 outputs
Outputs from BMC Medical Genomics
#1,566
of 2,444 outputs
Outputs of similar age
#236,228
of 326,293 outputs
Outputs of similar age from BMC Medical Genomics
#25
of 35 outputs
Altmetric has tracked 25,382,440 research outputs across all sources so far. This one is in the 18th percentile – i.e., 18% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one is in the 31st percentile – i.e., 31% of its peers scored the same or lower than it.
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We're also able to compare this research output to 35 others from the same source and published within six weeks on either side of this one. This one is in the 22nd percentile – i.e., 22% of its contemporaries scored the same or lower than it.