Evidence map›Paper›PMID 38585542›Full record

ArticleMolecular syndromology2024

Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the

Karam Yahya Belmokhtar, Imane Cherkaoui, Saida Lhousni, Mounia Elidrissi Errahhali, Manal Elidrissi Errahhali, Majida Charif, Redouane Boulouiz, Meryem Ouarzane, Aziza Elouali, Ayad Ghanam and 4 more

Abstract read
In one paragraph

Article in Molecular syndromology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
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

5 citing papers in PubMed.

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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

14 authors.

Karam Yahya BelmokhtarGenetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
Imane CherkaouiGenetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
Saida LhousniGenetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
Mounia Elidrissi ErrahhaliGenetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
Manal Elidrissi ErrahhaliGenetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
Majida CharifGenetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
Redouane BoulouizGenetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
Meryem OuarzaneGenetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
Aziza EloualiDepartment of Pediatrics, Mohammed VI University Hospital, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
Ayad GhanamDepartment of Pediatrics, Mohammed VI University Hospital, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
Abdeladim BabakhouyaDepartment of Pediatrics, Mohammed VI University Hospital, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
Maria RkainDepartment of Pediatrics, Mohammed VI University Hospital, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
Noufissa BenajibaDepartment of Pediatrics, Mohammed VI University Hospital, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
Mohammed BellaouiGenetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Triple-A syndrome (Triple-A) is an autosomal recessive disorder characterized by alacrimia, achalasia, and adrenal insufficiency. Several variants on the Methods: Screening for the Results: Seven unrelated families with ten individuals clinically diagnosed with Triple-A were evaluated for sequence variations in the Conclusion: This is the largest series of Triple-A in Morocco. The same

Indexed as

AAAS geneAllgrove syndromeBRO Biobankc.1331+1G > A variantCarrier frequencyFounder effectTriple-A syndrome

Identifiers

PMID38585542
PMCPMC10996341

What OpenQuestion holds

Textmetadata
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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.