Evidence map›Paper›PMID 36385762›Full record

ArticleFrontiers in molecular neuroscience2022

A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemia

Qiongling Peng, Yan Zhang, Binqiang Xian, Lianying Wu, Jianying Ding, Wuwu Ding, Xin Zhang, Bilan Ding, Ding Li, Jin Wu and 2 more

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

Article in Frontiers in molecular neuroscience, 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
0.3field-weighted citation impact, top 47% 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

12 authors at 3 institutions in 1 country.

Qiongling PengDepartment of Child Healthcare, Shenzhen Baoan Women's and Children's Hospital, Jinan University, Shenzhen, China.
Yan ZhangDepartment of Obstetrics and Gynecology, Strategic Support Force Medical Center, Beijing, China.
Binqiang XianDepartment of Child Healthcare, Shenzhen Baoan Women's and Children's Hospital, Jinan University, Shenzhen, China.
Lianying WuLaboratory of Translational Medicine Research, Deyang People's Hospital, Deyang, China.
Jianying DingDepartment of Child Healthcare, Shenzhen Baoan Women's and Children's Hospital, Jinan University, Shenzhen, China.
Wuwu DingDeyang Key Laboratory of Tumor Molecular Research, Department of Pathology, Deyang People's Hospital, Deyang, China.
Xin ZhangDepartment of Child Healthcare, Shenzhen Baoan Women's and Children's Hospital, Jinan University, Shenzhen, China.
Bilan DingDepartment of Child Healthcare, Shenzhen Baoan Women's and Children's Hospital, Jinan University, Shenzhen, China.
Ding LiLaboratory of Translational Medicine Research, Deyang People's Hospital, Deyang, China.
Jin WuLaboratory of Translational Medicine Research, Deyang People's Hospital, Deyang, China.
Xiaowu HuClinical Laboratory, Sichuan Provincial Rehabilitation Hospital, Chengdu, China.
Guanting LuLaboratory of Translational Medicine Research, Deyang People's Hospital, Deyang, China.
Deyang Stomatological Hospital · CNJinan University · CNSichuan Provincial Hospital of Traditional Chinese Medicine · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Wiedemann-Rautenstrauch syndrome (WDRTS) is an extremely rare autosomal recessive neonatal disorder. Currently, over 50 cases with variable phenotypes of WDRTS have been reported. In our cohort of prenatal and postnatal growth retardation, a female proband was found to have general growth retardation, neurocutaneous syndrome, and anemia. Karyotype test and array-CGH detected no obvious chromosomal aberrations. Trio-based whole-exome sequencing (Trio-WES) identified bi-allelic compound mutations in the coding sequence (CDS) of

Indexed as

FANCAFanconi anemiaPOLR3Apre-mRNA splicingwhole-exome sequencingWiedemann-Rautenstrauch syndrome

Identifiers

PMID36385762
PMCPMC9649808
OpenAlexW4307703289

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.