Clinical and genetic profiles of postnatal patients with skeletal dysplasia in Guangxi during 8 years: a single-center experience.

doi:10.1186/s13023-026-04414-2

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Article

Clinical and genetic profiles of postnatal patients with skeletal dysplasia in Guangxi during 8 years: a single-center experience.

Orphanet journal of rare diseases - 31 Aug 2026

Yi Sheng, Yang Qi, Wang Linlin, Zhou Xunzhao, Zhang Shujie, Qian Jiale, Yi Shang, Huang Jing, Chen Junjie, Zhang Qiang, Chen Fei, Li Jiao, Wei Shengkai, Zhang Xiaofei, Zhang Qinle, Pan Pingshan, Qin Zailong, Luo Jingsi

Abstract excerpt

BACKGROUND: Skeletal dysplasia (SD) is a clinically and genetically heterogeneous group of bone and cartilage disorders. Given the typically heterogeneous and nonspecific clinical manifestations associated with these conditions, molecular testing is essential to achieve a definitive diagnosis. To elucidate the clinical and molecular characteristics of genetic skeletal disorders in the Guangxi region, we conducted...

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Topics

Humans
Female
Male
Bone Diseases, Developmental
China

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Child, Preschool

Retrospective Studies

Child

Infant

Mutation

Exome Sequencing

Receptor, Fibroblast Growth Factor, Type 3

Adolescent

Source

Open in PubMed Open full text

Identifiers

PMID: 42669671
DOI: 10.1186/s13023-026-04414-2
PMCID: PMC13528159

Genes

FGFR3

Variants

Provenance

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