Evidence map›Paper›PMID 36105049›Full record

ArticleAmerican journal of translational research2022

Investigation of an inherited PCGF2: p.Pro65Leu mutation causing Turnpenny-Fry syndrome.

Ke-Yan Qi, Ming Shen, Kai Yang, You-Sheng Yan, Jue Wu, Yi-Peng Wang, Cheng-Hong Yin

Open access · greenAbstract read
PubMed Full text at PMC
In one paragraph

Article in American journal of translational research, 2022. 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 32% 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, 2 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

7 authors at 2 institutions in 1 country.

Ke-Yan QiPrenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University Beijing 100026, China.
Ming ShenResearch Center for Translational Medicine Laboratory, Medical Innovation Research Division of Chinese PLA General Hospital Beijing 100000, China.
Kai YangPrenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University Beijing 100026, China.
You-Sheng YanPrenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University Beijing 100026, China.
Jue WuResearch Center for Translational Medicine Laboratory, Medical Innovation Research Division of Chinese PLA General Hospital Beijing 100000, China.
Yi-Peng WangPrenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University Beijing 100026, China.
Cheng-Hong YinPrenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University Beijing 100026, China.
Beijing Obstetrics and Gynecology Hospital · CNChinese PLA General Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundTurnpenny-Fry syndrome (TPFS) has recently been defined as an uncommon monogenic disease and is characterized by global developmental delay (GDD), intellectualdisability (ID), facial dysmorphology, and skeletal abnormality.

methodsThe present study included the clinical evaluation of a 2.5-year-old boy with GDD and ID using cerebral MRI and the genetic testing with whole-exome sequencing. Additionally, the

resultsA recurrent missense variant, namely

conclusionOur results indicated that PCGF2: p.Pro65Leu might be a hotspot for GDD and highlighted the effect of this variant on protein function.

Indexed as

molecular dynamic simulationPCGF2 geneTurnpenny-Fry syndromewhole-exome sequencing

Identifiers

PMID36105049
PMCPMC9452349
OpenAlexW4295902036

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.