Evidence map›Paper›PMID 30800048›Full record

ArticleMolecular syndromology2019

Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome.

Veronica Arora, Shruti Aggarwal, Sunita Bijarnia, Meena Lall, Anju Joshi, Ratna Dua-Puri, Umang Arora, Ishwar Verma

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In one paragraph

Article in Molecular syndromology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

8 authors.

Veronica AroraInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Shruti AggarwalInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Sunita BijarniaInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Meena LallInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Anju JoshiInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Ratna Dua-PuriInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Umang AroraAll India Institute of Medical Sciences, New Delhi, India.
Ishwar VermaInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Array CGH has led to the delineation of innumerable microdeletion syndromes. We present a patient with a 7-Mb deletion at 5q11.2 with previously unreported features, such as immunodeficiency, asymmetry of hands and feet, joint laxity, and agenesis of corpus callosum. The clinical features of this patient are compared with 13 patients reported previously. A common critical region (CCR) of 1.4 Mb (54-55.4 Mb) is defined in all cases including the present one. Of the 14 genes present in CCR,

Indexed as

5q11 microdeletion syndromeCommon critical regionIL6STImmunodeficiency

Identifiers

PMID30800048
PMCPMC6381899

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