Evidence map›Paper›PMID 40313484›Full record

ReviewFrontiers in endocrinology2025

Pycnodysostosis: a case series of eight Saudi patients with cathepsin K gene mutation and a literature review.

Afaf Alsagheir, Raghad Alhuthil, Ahmad T Alissa, Faisal Joueidi, Ahmed G Sayed, Waleed Al-Amoudi, Alanoud S Alabdulhadi, Bassam Bin-Abbas

Abstract readReviewCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Review in Frontiers in endocrinology, 2025. 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

8 authors.

Afaf AlsagheirDepartment of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Raghad AlhuthilDepartment of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Ahmad T AlissaCollege of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Faisal JoueidiCollege of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Ahmed G SayedCollege of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Waleed Al-AmoudiCollege of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Alanoud S AlabdulhadiCollege of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Bassam Bin-AbbasDepartment of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pycnodysostosis, a rare osteopetrosis subtype, is mainly caused by homozygous or compound heterozygous biallelic pathogenic mutation of the cathepsin K (

Indexed as

Cathepsin KMutationPycnodysostosisAdolescentChildChild, PreschoolFemaleHumansMaleSaudi ArabiaCathepsin KCTSK protein, humanbone fractureCTSK geneosteomyelitisosteopetrosisskeletal deformities

Identifiers

PMID40313484
PMCPMC12043476

What OpenQuestion holds

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Registered trials

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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.