Evidence map›Paper›PMID 35812756›Full record

ArticleFrontiers in genetics2022

Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO).

Lihong Fan, Pengzhen Jin, Yeqing Qian, Guosong Shen, Xueping Shen, Minyue Dong

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

Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.3field-weighted citation impact, top 45% 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

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. A Novel Variant in the Cyto-Tail ofMolecular syndromology · 2024
    Article
  2. Novel homozygous silent mutation ofFrontiers in pediatrics · 2022
    Article
  3. 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

6 authors at 2 institutions in 1 country.

Lihong FanCenter of Prenatal Diagnosis, Huzhou Maternity & Child Health Care Hospital, Huzhou, China.
Pengzhen JinWomen's Hospital, School of Medicine Zhejiang University, Hangzhou, China.
Yeqing QianWomen's Hospital, School of Medicine Zhejiang University, Hangzhou, China.
Guosong ShenCenter of Prenatal Diagnosis, Huzhou Maternity & Child Health Care Hospital, Huzhou, China.
Xueping ShenCenter of Prenatal Diagnosis, Huzhou Maternity & Child Health Care Hospital, Huzhou, China.
Minyue DongWomen's Hospital, School of Medicine Zhejiang University, Hangzhou, China.
Huzhou Women and Children's Hospital · CNWomen's Hospital, School of Medicine, Zhejiang University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Postaxial polydactyly is a common congenital malformation which involves complex genetic factors. This retrospective study analyzed the cytogenetic and molecular results of a Chinese fetus diagnosed with postaxial polydactyly of all four limbs. Fetal karyotyping and chromosomal microarray analysis (CMA) did not find any abnormality while trio whole-exome sequencing (trio-WES) identified bi-allelic variants in smoothened (

Indexed as

bi-allelic variantsgenetic counselingpostaxial polydactylysmoothenedwhole-exome sequencing

Identifiers

PMID35812756
PMCPMC9257524
OpenAlexW4283257784

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.