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Article

Deep insights and clinical benefits from the comprehensive cohort of fetal skeletal dysplasia in China.

Journal of genetics and genomics = Yi chuan xue bao - 1 Dec 2025

Li Guozhuang, Xu Kexin, Cai Jihao, Jiang Yulin, Zhou Xiya, Lv Yan, Hao Na, Yu Yiqing, Zhao Sen, Li Qing, Zhao Lina, Zhao Zhengye, Wu Zhihong, Zou Ying, Zhang Terry Jianguo, Zhang Shuyang, Wu Nan, Qi Qingwei

Abstract excerpt

Fetal skeletal dysplasia (FSD) encompasses diverse clinical features and complicates prenatal diagnosis and perinatal care. In this retrospective study, we integrate prenatal deep phenotyping with exome or genome sequencing (ES/GS) to elucidate comprehensive genotype and phenotype landscapes, diagnostic outcomes, genotype-phenotype correlations, and postnatal follow-up findings and to refine genetic counseling...

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Bone Diseases, Developmental
China
Cohort Studies
Fetus
Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Testing

Prenatal Diagnosis

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PMID: 40967340
DOI: 10.1016/j.jgg.2025.09.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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