Evidence map›Paper›PMID 36793634›Full record

ArticleWorld journal of clinical cases2023

Clinical and genetic diagnosis of autosomal dominant osteopetrosis type II in a Chinese family: A case report.

Hong-Ping Gong, Yan Ren, Pan-Pan Zha, Wen-Yan Zhang, Jin Zhang, Zhi-Wen Zhang, Chun Wang

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

Article in World journal of clinical cases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 38% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. 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

7 authors at 1 institution in 1 country.

Hong-Ping GongInternational Medical Center Ward, General Practice Medical Center, Sichuan University West China Hospital, Chengdu 610041, Sichuan Province, China.
Yan RenDepartment of Endocrinology and Metabolism, Sichuan University West China Hospital, Chengdu 610041, Sichuan Province, China.
Pan-Pan ZhaDepartment of Endocrinology and Metabolism, Sichuan University West China Hospital, Chengdu 610041, Sichuan Province, China.
Wen-Yan ZhangDepartment of Pathology, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China.
Jin ZhangDepartment of Endocrinology and Metabolism, The People's Hospital of Leshan, Leshan 614003, Sichuan Province, China.
Zhi-Wen ZhangDepartment of Endocrinology and Metabolism, The People's Hospital of Leshan, Leshan 614003, Sichuan Province, China.
Chun WangDepartment of Endocrinology and Metabolism, Sichuan University West China Hospital, Chengdu 610041, Sichuan Province, China. snoopywc@163.com.
West China Hospital of Sichuan University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundOsteopetrosis is a rare genetic disorder characterized by increased bone density due to defective bone resorption of osteoclasts. Approximately, 80% of autosomal dominant osteopetrosis type II (ADO-II) patients were usually affected by heterozygous dominant mutations in the chloride voltage-gated channel 7 ( CASE SUMMARY: We report a 53-year-old female with joint pain who was accidentally diagnosed with ADO-II. The clinical diagnosis was based on increased bone density and typical radiographic features. Two heterozygous mutations in the

conclusionThis ADO-II case had a pathogenic

Indexed as

Autosomal dominant osteopetrosis type IICase reportDiagnosisGenetic analysisOsteopetrosis

Identifiers

PMID36793634
PMCPMC9923847
OpenAlexW4317693850

What OpenQuestion holds

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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.