Evidence map›Paper›PMID 41982866›Full record

ArticleClinical case reports2026

Expanding the Phenotypic Spectrum of Anauxetic Dysplasia Type 3: Reporting an Iranian Family With Unique Systemic Features and

Mahnaz Mohammadi Kian, Sara Sheikholeslami, Maryam Kiani Feizabadi, Amir Mohammad Roshanaeizadeh, Atousa Haghi, Ahmad Reza Salehi Chaleshtori, Hamid Reza Moazzeni

Abstract read
In one paragraph

Article in Clinical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Mahnaz Mohammadi KianMomgene Personalized Medicine Center Tehran Iran.
Sara SheikholeslamiMomgene Personalized Medicine Center Tehran Iran.ORCID https://orcid.org/0000-0002-6594-4251
Maryam Kiani FeizabadiMomgene Personalized Medicine Center Tehran Iran.
Amir Mohammad RoshanaeizadehMomgene Personalized Medicine Center Tehran Iran.
Atousa HaghiResearch Institute for Oncology, Hematology and Cell Therapy Tehran University of Medical Sciences Tehran Iran.
Ahmad Reza Salehi ChaleshtoriMomgene Personalized Medicine Center Tehran Iran.
Hamid Reza MoazzeniMomgene Personalized Medicine Center Tehran Iran.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The cartilage hair hypoplasia-anauxetic dysplasia (CHH-AD) spectrum represents a group of rare autosomal recessive skeletal dysplasias with significant phenotypic heterogeneity. These disorders are classified based on pathogenic variants in the

Indexed as

anauxetic dysplasia type 3cartilage hair hypoplasia‐anauxetic dysplasiaNEPRO genewhole exome sequencing

Identifiers

PMID41982866
PMCPMC13070871

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.