Evidence map›Paper›PMID 36909322›Full record

ArticleFrontiers in endocrinology2023

A rare homozygous variant of

ShuPing Liu, Ting Zeng, Cheng Luo, DanXia Peng, Xuan Xu, Qin Liu, Qiong Wu, Qin Lu, FuRong Huang

Full text readCase Reports
In one paragraph

Article in Frontiers in endocrinology, 2023. 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
–field-weighted citation impact
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.

  1. Article
  2. Article
  3. Review
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

9 authors.

ShuPing LiuDepartment of Children's Medical Center, Hunan Provincial People's Hospital, The First Affiliated Hospital of Hunan Normal University, Changsha, Hunan, China.
Ting ZengDepartment of Children's Health Care, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, Guangxi, China.
Cheng LuoDepartment of Children's Medical Center, Hunan Provincial People's Hospital, The First Affiliated Hospital of Hunan Normal University, Changsha, Hunan, China.
DanXia PengDepartment of Children's Medical Center, Hunan Provincial People's Hospital, The First Affiliated Hospital of Hunan Normal University, Changsha, Hunan, China.
Xuan XuDepartment of Children's Medical Center, Hunan Provincial People's Hospital, The First Affiliated Hospital of Hunan Normal University, Changsha, Hunan, China.
Qin LiuDepartment of Children's Medical Center, Hunan Provincial People's Hospital, The First Affiliated Hospital of Hunan Normal University, Changsha, Hunan, China.
Qiong WuDepartment of Children's Medical Center, Hunan Provincial People's Hospital, The First Affiliated Hospital of Hunan Normal University, Changsha, Hunan, China.
Qin LuDepartment of Applied and Translational Medicine, GeneMind Biosciences Company Limited, Shenzhen, China.
FuRong HuangDepartment of Children's Medical Center, Hunan Provincial People's Hospital, The First Affiliated Hospital of Hunan Normal University, Changsha, Hunan, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Melanocortin-2 receptor ( Case presentation: We first reported a Chinese family with two affected siblings with a homozygotic variant of c.712C>T/p.H238Y in Conclusions: We reported a Chinese family with affected siblings having a homozygotic variant of c.712C>T/p.H238Y in

Indexed as

GlucocorticoidsReceptor, Melanocortin, Type 2Adrenal InsufficiencyEast Asian PeopleHumansMutationSteroid Metabolism, Inborn ErrorsGlucocorticoidsReceptor, Melanocortin, Type 2ACTH resistanceChinese siblingsFGD1homozygous mutationMC2R

Identifiers

PMID36909322
PMCPMC10003339

What OpenQuestion holds

Textfull text, public
LicenceCC BY
measurements read8
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.