Evidence map›Paper›PMID 36147795›Full record

ArticleClinical pathology (Thousand Oaks, Ventura County, Calif.)

R306X Mutation in the

Wafaa Bouzroud, Amal Tazzite, Sarah Berrada, Bouchaïb Gazzaz, Hind Dehbi

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical pathology (Thousand Oaks, Ventura County, Calif.). The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.2field-weighted citation impact, top 38% 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

0 citing papers in PubMed, 1 citations in OpenAlex.

No citing paper in PubMed yet.

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

5 authors at 3 institutions in 1 country.

Wafaa BouzroudMedical Genetics Laboratory, Ibn Rochd University Hospital, Casablanca, Morocco.
Amal TazziteLaboratory of Cellular and Molecular Pathology, Faculty of Medicine and Pharmacy, Hassan II University, Casablanca, Morocco.
Sarah BerradaMedical Genetics Laboratory, Ibn Rochd University Hospital, Casablanca, Morocco.
Bouchaïb GazzazLaboratory of Cellular and Molecular Pathology, Faculty of Medicine and Pharmacy, Hassan II University, Casablanca, Morocco.
Hind DehbiMedical Genetics Laboratory, Ibn Rochd University Hospital, Casablanca, Morocco.
Centre Hospitalier Universitaire Ibn Rochd · MAUniversity of Hassan II Casablanca · MALaboratoire de Recherche et d’Analyses Médicales de la Fraternelle de la Gendarmerie Royale · MA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Rett syndrome (RTT) is a rare X-linked syndrome that predominantly affects girls. It is characterized by a severe and progressive neurodevelopmental disorder with neurological regression and autism spectrum features. The Rett syndrome is associated with a broad phenotypic spectrum. It ranges from a classical Rett syndrome defined by well-established criteria to atypical cases with symptoms similar to other syndromes, such as Angelman syndrome. The first case of a Moroccan female child carrying a R306X mutation in the

Indexed as

Angelman syndromeMECP2neurodevelopmental disordersRett syndromeUBE3Awhole exome sequencing

Identifiers

PMID36147795
PMCPMC9486266
OpenAlexW4296270913

What OpenQuestion holds

Textmetadata
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.