Evidence map›Paper›PMID 31555424›Full record

ArticleOman medical journal2019

Further Clinical and Molecular Delineation of Xp11.22 Deletion Syndrome: A Case Report.

Halima Al-Shehhi, Ahlam Gabr, Intisar Al-Haddabi, Raquel Tena, Anna Baquero, Watfa Al-Maamari, Almundher Al-Maawali

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Oman medical journal, 2019. 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
–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

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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.

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

7 authors.

Halima Al-ShehhiDepartment of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
Ahlam GabrGenetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.
Intisar Al-HaddabiGenetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.
Raquel TenaMicroarray Laboratory, Cytogenomics Unit, Sistemas Genómicos S.L., Valencia, Spain.
Anna BaqueroMicroarray Laboratory, Cytogenomics Unit, Sistemas Genómicos S.L., Valencia, Spain.
Watfa Al-MaamariGenetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.
Almundher Al-MaawaliDepartment of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Intellectual disability (ID) is the most common diagnosis noted among children with genetic disorders. It causes social and economic burden to families and communities. The genetic causes are not completely understood, and there is significant heterogeneity. Recently, a new chromosomal X-linked syndrome was reported to cause ID. Four males were described from three families with ID, developmental delay, hypotonia, joint hypermobility, and relative macrocephaly. They all carried small, overlapping Xp11.22 deletions. To date, the described smallest region of overlapping deletion at this locus spanned ~ 430 kb) and included four genes (

Indexed as

Chromosome Xp11.3 Deletion SyndromeGSPT2 protein, humanIntellectual DisabilityMAGED1 protein, humanMicroarray Analysis

Identifiers

PMID31555424
PMCPMC6745418

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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.