Evidence map›Paper›PMID 36798937›Full record

ArticleTranslational pediatrics2023

A newborn with a pathogenic variant in ASXL2 expanding the phenotype of SHAPNS: a case report and literature review.

Meng Yuan, Yuanyuan Shan, Fanshu Xu, Lin Yang, Chengjun Sun, Ruoqian Cheng, Bingbing Wu, Zhehuan Zhang, Yun Cao, Rong Zhang and 3 more

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

Article in Translational pediatrics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.3field-weighted citation impact, top 18% 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

4 citing papers in PubMed, 4 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. 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

13 authors at 1 institution in 1 country.

Meng Yuan *Department of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Yuanyuan Shan *Department of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Fanshu XuDepartment of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Lin YangDepartment of Endocrinology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Chengjun SunDepartment of Endocrinology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Ruoqian ChengDepartment of Endocrinology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Bingbing WuShanghai Key Laboratory of Birth Defects, The Translational Medicine Center of Children Development and Disease of Fudan University, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Zhehuan ZhangDepartment of Ophthalmology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Yun CaoDepartment of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Rong ZhangDepartment of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Wenhao ZhouDepartment of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Guoqiang ChengDepartment of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Liyuan HuDepartment of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Children's Hospital of Fudan University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Shashi-Pena syndrome (SHAPNS) is a developmental disorder caused by mutations in additional sex combs-like Protein 2 ( Case Description: A newborn was diagnosed with a previously unreported Conclusions: We present a newborn diagnosing the SHAPNS by trio-WES, which is the earliest age of diagnosis. The application of octreotide for hypoglycemia, the small cerebellum and bilateral paving-stone-like white lesions of the retinas are described for the first time in an individual with

Indexed as

ASXL2case reportChina Neonatal Genomes Project (CNGP)neonateShashi-Pena syndrome (SHAPNS)

Identifiers

PMID36798937
PMCPMC9926125
OpenAlexW4315434839

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.