Clinical Presentation and WES Analysis of a Large Iranian Pedigree in Five Successive Generation Affected to Sever Multiple Synostosis 2 (SYNS2, Farhud Type).

Dariush D Farhud, Marjan Zarif-Yeganeh, Hajar Arian, Majid Kashi, Tayebeh Rezaee

Abstract read

In one paragraph

Article in Iranian journal of public health, 2024. 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

–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

1 citing paper in PubMed.

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology.Clinical genetics · 2025
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

5 authors.

Dariush D FarhudSchool of Public Health, Tehran University of Medical Sciences, Tehran, Iran.

Marjan Zarif-YeganehResearch Institute of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran.

Hajar ArianResearch Institute of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran.

Majid KashiTabnak Radiology Center, Tehran, Iran.

Tayebeh RezaeeSurgical Research Center, Department of Surgery, University of Connecticut Health Center, Farmington, CT, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Bone Morphogenetic Proteins and the related Growth and Differentiation Factors (GDFs) are much conserved signaling proteins. GDF5 is pivotal for skeletal development. Several skeletal dysplasia and malformation syndromes are known as a result of mutations in Methods: In this family-based study (1982-2022), Genetic linkage analysis of the pedigree (58affected, 62healthy) excluded the locus on chromosome 17q21-q22 in our previous study. Thus, we focused on 20q11.22 locus and Results: Whole-exome-sequencing results identified a heterozygote missense mutation in exon2 of Conclusion: These results introduce a new role of

Indexed as

GeneticsIranian pedigreeMultiple synostoses syndrome2

Identifiers

PMID39430143

PMCPMC11488561

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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.