Work

[Clinical and genetic characteristics of osteopetrosis in children].

Year: 2025

Type: other

Abstract: OBJECTIVES: To study the clinical and genetic characteristics of osteopetrosis (OPT) in children. METHODS: A retrospective analysis was performed on the clinical data of 14 children with OPT. Whole-exome sequencing was used to detect pathogenic genes, and clinical phenotypes and genotypic features were summarized. RESULTS: variants, 4 presented with intermediate OPT, 2 with benign OPT, and 1 with MOP. CONCLUSIONS: gene variants, with a correlation between clinical phenotypes and genotypes.

Source: PubMed

DOI: 10.7499/j.issn.1008-8830.2411167

Authors: Min Wang, Ao-Shuang Jiang, Cheng-Lin Zhu, Jie Wang, Ya-Ping Wang, Shan Gao, Yan Li, Tian-Ping Chen, Hong-Jun Liu, Jian Wang

Institution: Anhui Provincial Children's Hospital

Language: English

Topic: Bone Metabolism and Diseases

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W4411045513

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