Evidence map›Paper›PMID 34680903›Full record

ArticleGenes2021

Two Decades after Mandibuloacral Dysplasia Discovery: Additional Cases and Comprehensive View of Disease Characteristics.

Isabelle Jéru, Amira Nabil, Gehad El-Makkawy, Olivier Lascols, Corinne Vigouroux, Ebtesam Abdalla

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 1 pooled it
0.7field-weighted citation impact, top 30% 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

10 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.

  1. Pooled it
  2. Founder Pathogenic Variant inJournal of clinical research in pediatric endocrinology · 2026
    Article
  3. Review
  4. MAM-STAT3-Driven Mitochondrial CaAdvanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025
    Article
  5. Review
  6. Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes.International journal of molecular sciences · 2024
    Review
  7. Case report: A novel splice-site mutation ofFrontiers in endocrinology · 2024
    Review
  8. A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2024
    Article
  9. Review
  10. Lipodystrophy-associated progeroid syndromes.Hormones (Athens, Greece) · 2022
    Review
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 2 countries.

Isabelle JéruInserm UMR_S938, Saint-Antoine Research Center, Institute of Cardiometabolism and Nutrition, Sorbonne University, 75012 Paris, France.
Amira NabilDepartment of Human Genetics, Medical Research Institute, Alexandria University, Alexandria 21561, Egypt.
Gehad El-MakkawyDepartment of Human Genetics, Medical Research Institute, Alexandria University, Alexandria 21561, Egypt.
Olivier LascolsInserm UMR_S938, Saint-Antoine Research Center, Institute of Cardiometabolism and Nutrition, Sorbonne University, 75012 Paris, France.
Corinne VigourouxInserm UMR_S938, Saint-Antoine Research Center, Institute of Cardiometabolism and Nutrition, Sorbonne University, 75012 Paris, France.ORCID 0000-0002-8181-4721
Ebtesam AbdallaDepartment of Human Genetics, Medical Research Institute, Alexandria University, Alexandria 21561, Egypt.
Alexandria University · EGInserm · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pathogenic variants in the

Indexed as

PhenotypeAcro-OsteolysisAdultChildChild, PreschoolFemaleHumansLamin Type ALipodystrophyMaleMandibleMutation, MissenseLamin Type ALMNA protein, humanacro-osteolysisgenotype–phenotype correlationlipodystrophyLMNAmandibuloacral dysplasia

Identifiers

PMID34680903
PMCPMC8535562
OpenAlexW3204579295

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.