Evidence map›Paper›PMID 31548836›Full record

ArticleHereditas2019

Identification of

Xueren Gao, Kunxia Li, Yanjie Fan, Yu Sun, Xiaomei Luo, Lili Wang, Huili Liu, Zhuwen Gong, Jianguo Wang, Yu Wang and 2 more

Open access · goldAbstract read
In one paragraph

Article in Hereditas, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
0.5field-weighted citation impact, top 35% 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

9 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Cleidocranial dysplasia, a rare skeletal disorder with failure of the cranial closure: case-based update.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020
    Review
  9. 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

12 authors at 2 institutions in 1 country.

Xueren Gao *1Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, 200092 China.
Kunxia Li *2The Affiliated Yantai Yuhuangding Hospital of Qingdao University, Qingdao, Shandong China.
Yanjie Fan1Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, 200092 China.
Yu Sun1Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, 200092 China.
Xiaomei Luo1Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, 200092 China.
Lili Wang1Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, 200092 China.
Huili Liu1Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, 200092 China.
Zhuwen Gong1Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, 200092 China.
Jianguo Wang1Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, 200092 China.
Yu Wang1Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, 200092 China.
Xuefan Gu1Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, 200092 China.
Yongguo Yu1Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, 200092 China.ORCID 0000-0002-4472-0910
XinHua Hospital · CNQingdao University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCleidocranial dysplasia (CCD) is a rare autosomal dominant disorder mainly characterized by hypoplastic or absent clavicles, delayed closure of the fontanelles, multiple dental abnormalities, and short stature. Runt-related transcription factor 2 (

methodsIn this study, we detected genetic variants in seven unrelated children with CCD by targeted high-throughput DNA sequencing or Sanger sequencing.

resultsAll patients carried a

conclusionsThe present study expands the pathogenic variant spectrum of

Indexed as

Cell NucleusChildChild, PreschoolCleidocranial DysplasiaCore Binding Factor Alpha 1 SubunitFemaleHigh-Throughput Nucleotide SequencingHumansInfantMaleMutationPedigreeCore Binding Factor Alpha 1 SubunitRUNX2 protein, humanCleidocranial dysplasiaPathogenic variantRUNX2Targeted next-generation sequencing

Identifiers

PMID31548836
PMCPMC6747736
OpenAlexW2974175347

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.