Exome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest Iran.

doi:10.1111/cge.70070

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Article

Exome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest Iran.

Clinical genetics - 1 Mar 2026

Zabihi Rezvan, Zamani Mina, Chamanrou Niloofar, Zeighami Jawaher, Seifi Tahere, Ashoori Saeed, Parvas Sahere, Yadegari Tahere, Mousavi Fateme, Khajevandian Elham, Sarvari Moslem, Shojaei Kobra, Nourbakhsh Pardis, Keikhaei Bijan, Aminzadeh Majid, Ahmadi Raha, Anaei Marzieh Mohammadi, Sedaghat Alireza, Saberi Alihossein, Hamid Mohammad, Shariati Golamreza, Galehdari Hamid

Abstract excerpt

Genetic skeletal disorders (GSDs) comprise a diverse group of disorders that affect bone development and homeostasis. In some areas of Iran, GSD occurs more frequently than in other places for still unknown reasons. The aim of this study was to characterize the genetic landscape of GSDs in a cohort from southwestern Iran using Exome sequencing (ES), with a focus on identifying pathogenic and likely pathogenic...

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PMID: 40948380
DOI: 10.1111/cge.70070

Genes

FGFR3

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