Evidence map›Paper›PMID 34899147›Full record

ArticleMolecular syndromology2021

Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel

Nihat Bugra Agaoglu, Ozlem Akgun Dogan

Open access · bronzeAbstract readCase Reports
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 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.4field-weighted citation impact, top 37% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. 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

2 authors at 1 institution in 1 country.

Nihat Bugra AgaogluGLAB (Genomic Laboratory), Umraniye Training and Research Hospital, Istanbul, Turkey.
Ozlem Akgun DoganGLAB (Genomic Laboratory), Umraniye Training and Research Hospital, Istanbul, Turkey.
Ümraniye Eğitim ve Araştırma Hastanesi · TR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The 3MC syndrome is a rare autosomal recessive syndrome characterized by facial dysmorphism, multiple congenital abnormalities, and postnatal growth deficiency. Hypertelorism, blepharophimosis, blepharoptosis, high-arched eyebrows, and cleft lip/palate compose the facial gestalt, which is the key component for diagnosing the syndrome. Biallelic pathogenic variants in

Indexed as

3MC syndromeDysmorphismMacrocephalyMASP1Novel variantPrenatal findingPyloric stenosis

Identifiers

PMID34899147
PMCPMC8613602
OpenAlexW3196995189

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.