Evidence map›Paper›PMID 36247276›Full record

ArticleAmerican journal of translational research2022

Genetic analysis of seven pateints with Hereditary Multiple Osteochondromas (HMO).

Zhuo Ren, Jia-Yu Yuan, Jing Zhang, Ya Tan, Wen-Qi Chen, Zhen-Tao Zhang, Ya-Zhou Li

Open access · greenAbstract read
In one paragraph

Article in American journal of translational research, 2022. 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
0.5field-weighted citation impact, top 33% 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, 3 citations in OpenAlex.

  1. Article
  2. Haemothorax as an Unusual Presentation of Osteochondroma:Sultan Qaboos University medical journal · 2025
    Review
  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

7 authors at 4 institutions in 1 country.

Zhuo RenDepartment of Obstetrics and Gynecology, Peking University International Hospital Beijing 102206, China.
Jia-Yu YuanDepartment of Pediatric Orthopaedics, The Third Hospital of Hebei Medical University Shijiazhuang 050051, Hebei, China.
Jing ZhangPrenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital Shijiazhuang 050051, Hebei, China.
Ya TanDepartment of Obstetrics and Gynecology, Peking University International Hospital Beijing 102206, China.
Wen-Qi ChenPrenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital Shijiazhuang 050051, Hebei, China.
Zhen-Tao ZhangPain Department, The People's Hospital of Langfang Langfang 065000, Hebei, China.
Ya-Zhou LiDepartment of Pediatric Orthopaedics, The Third Hospital of Hebei Medical University Shijiazhuang 050051, Hebei, China.
Hebei Medical University · CNHospital of Hebei Province · CNPeking University · CNLangfang Normal University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHMO (Hereditary Multiple Osteochondroma), an uncommon autosomal dominant disorder, is characterized by the development of multiple osteochondromas, which are nonmalignant cartilage-capped bone tumors growing outwards from long bone metaphyses.

methodsThe present work retrospectively analyzed seven children with HMO who were enrolled for routine clinical diagnosis and treatment, including X-ray examination. Subsequent genetic detection was carried out using whole exome sequencing (WES). In addition, this work applied Sanger sequencing to be the validation approach. Moreover, this work also examined amino acid (AA) evolutionary conservatism under the influence of certain missense variants.

resultsThe clinical indications of all seven patients and their family members were thoroughly indexed. WES identified diagnostic variants in the

conclusionOur results expanded HMO variation spectrum, and laid certain foundations for the precise counseling of those affected families.

Indexed as

EXT1 geneEXT2 geneHereditary multiple osteochondromasNovel mutationWhole-exome sequencing

Identifiers

PMID36247276
PMCPMC9556467
OpenAlexW4306669583

What OpenQuestion holds

Textmetadata
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.