Evidence map›Paper›PMID 34012382›Full record

ArticleMolecular syndromology2021

Kabuki Syndrome: Identification of Two Novel Variants in

Mehrnoosh Khodaeian, Ehsan Jafarinia, Fatemeh Bitarafan, Shohreh Shafeii, Navid Almadani, Mohammad Ali Daneshmand, Masoud Garshasbi

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

Article in Molecular syndromology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.2field-weighted citation impact, top 20% 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

7 citing papers in PubMed, 9 citations in OpenAlex.

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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

7 authors at 3 institutions in 1 country.

Mehrnoosh KhodaeianDepartment of Medical Genetics, DeNA Laboratory, Tehran, Iran.
Ehsan JafariniaDepartment of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Teheran, Iran.
Fatemeh BitarafanDepartment of Medical Genetics, DeNA Laboratory, Tehran, Iran.
Shohreh ShafeiiDr. Shafeii Genetic Counseling Center, Arak, Iran.
Navid AlmadaniDepartment of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
Mohammad Ali DaneshmandDaneshmand Pathology Laboratory, Arak, Iran.
Masoud GarshasbiDepartment of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Teheran, Iran.
Tarbiat Modares University · IRDr. Daneshbod Labratory · IRRoyan Institute · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Kabuki syndrome (KS) is a rare genetic disorder characterized by the following 5 crucial symptoms: dysmorphic facial features, growth retardation, skeletal abnormalities, intellectual disability, and dermatoglyphic malformations. Studies show that most of the KS cases are caused by mutations or large deletions in the

Indexed as

Kabuki syndromeKDM6AKMT2DNovel variantsWhole-exome sequencing

Identifiers

PMID34012382
PMCPMC8114050
OpenAlexW3135445976

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.