Evidence map›Paper›PMID 32629534›Full record

ReviewDevelopmental dynamics : an official publication of the American Association of Anatomists2021

Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes.

Cortney Gensemer, Randall Burks, Steven Kautz, Daniel P Judge, Mark Lavallee, Russell A Norris

Open access · bronzeAbstract readReview
In one paragraph

Review in Developmental dynamics : an official publication of the American Association of Anatomists, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 97 papers.

0numbers the graph read from it
0cells of the map it votes in
97citing papers in PubMed
9.2field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

97 citing papers in PubMed, 136 citations in OpenAlex.

  1. Trial
  2. Ocular Clues in Musculoskeletal Disorders: A Narrative Review for Orthopaedic Specialists.Journal of the American Academy of Orthopaedic Surgeons. Global research & reviews · 2026
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37 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 2 institutions in 1 country.

Cortney GensemerDepartment of Regenerative Medicine and Cell Biology, Medical University of South Carolina, Charleston, South Carolina, USA.
Randall BurksDepartment of Regenerative Medicine and Cell Biology, Medical University of South Carolina, Charleston, South Carolina, USA.
Steven KautzDepartment of Health Sciences and Research, Medical University of South Carolina, Charleston, South Carolina, USA.
Daniel P JudgeDepartment of Medicine, Division of Cardiology, Medical University of South Carolina, Charleston, South Carolina, USA.
Mark LavalleeDepartment of Family Medicine, Wellspan Health, York, Pennsylvania, USA.
Russell A NorrisDepartment of Regenerative Medicine and Cell Biology, Medical University of South Carolina, Charleston, South Carolina, USA.ORCID 0000-0001-8462-5726
Medical University of South Carolina · USWellSpan Health · US

Funding

Targeted Nano-therapeutics for Neural RegenerationP20GM103444 · NIGMS · CLEMSON UNIVERSITY · PI NORRIS, RUSSELL · 2012 to 2018
$14.9M
TRAINING TO IMPROVE CARDIOVASCULAR THERAPIEST32HL007260 · NHLBI · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI MENICK, DONALD R. · 1985 to 2021
$11.1M
Transnational Research Imaging Core (TRI)P30GM131959 · NIGMS · CLEMSON UNIVERSITY · PI VYAVAHARE, NAREN R · 2019 to 2023
$5.9M
Cilia and Valvular Heart DiseaseR01HL131546 · NHLBI · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI NORRIS, RUSSELL · 2016 to 2025
$4.4M
Cellular, Biochemical and Molecular Sciences Training Program: Developing the skills and expertise needed for a changing biomedical landscapeT32GM132055 · NIGMS · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI Amy D Bradshaw, John P O'Bryan · 2019 to 2026
$3.9M
Genetics and Mechanisms of Mitral Valve ProlapseR01HL127692 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI MILAN, DAVID J, SLAUGENHAUPT, SUSAN A · 2015 to 2018
$3.0M
EXTRAMURAL RESEARCH FACILITIES CONSTRUCTIONC06RR018823 · NCRR · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI RAYMOND, JOHN R · 2003 to 2003
$2.9M
MUSC Post-Baccalaureate Research Education ProgramR25GM113278 · NIGMS · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI DELEON-PENNELL, KRISTINE Y, PENROD-MARTIN, RACHEL · 2015 to 2024
$2.7M
Dzip1 and Mitral Valve ProlapseR01HL149696 · NHLBI · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI NORRIS, RUSSELL · 2020 to 2023
$2.0M
RR&D Research Career Scientist Award ApplicationIK6RX003075 · VA · RALPH H JOHNSON VA MEDICAL CENTER · PI KAUTZ, STEVEN A. · 2020 to 2025
–
NCRR NIH HHS C06 RR018823NCRR NIH HHS rr018823NHLBI NIH HHS 007260NHLBI NIH HHS 127692NHLBI NIH HHS R01 HL131546NHLBI NIH HHS R01 HL149696NHLBI NIH HHS T32 HL007260NIGMS NIH HHS P20 GM103444NIGMS NIH HHS P30 GM131959NIGMS NIH HHS R25 GM113278NIGMS NIH HHS T32 GM132055RRD VA IK6 RX003075
6 · The paper itself

Abstract

The Ehlers-Danlos syndromes (EDS) are a group of heritable, connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. There is phenotypic and genetic variation among the 13 subtypes. The initial genetic findings on EDS were related to alterations in fibrillar collagen, but the elucidation of the molecular basis of many of the subtypes revealed several genes not involved in collagen biosynthesis or structure. However, the genetic basis of the hypermobile type of EDS (hEDS) is still unknown. hEDS is the most common type of EDS and involves generalized joint hypermobility, musculoskeletal manifestations, and mild skin involvement along with the presence of several comorbid conditions. Variability in the spectrum and severity of symptoms and progression of patient phenotype likely depend on age, gender, lifestyle, and expression domains of the EDS genes during development and postnatal life. In this review, we summarize the current molecular, genetic, epidemiologic, and pathogenetic findings related to EDS with a focus on the hypermobile type.

Indexed as

Ehlers-Danlos SyndromeJoint InstabilityAge FactorsHumansSex FactorsEhlers-Danlos syndromehypermobilitymusculoskeletal

Identifiers

PMID32629534
PMCPMC7785693
OpenAlexW3041452159

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.