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May 10, 2024

[Prenatal phenotype and genetic analysis of a fetus with Fibrochondrogenesis 1 due to compound heterozygous variants of COL11A1 gene].

Jingwen Wu Yuan Lyu Shu Xyu Xianzhen Wang

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Abstract

To explore the genetic etiology of a fetus with short limbs identified by prenatal ultrasonography.

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Wu et al. (2024) studied this question.

synapsesocial.com/papers/68e6ab39b6db64358762e005 https://doi.org/10.3760/cma.j.cn511374-20231219-00341

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Prenatal Imaging of Micrognathia, Micromelia, and Fetal Hydrops Leading to the Diagnosis of Achondrogenesis Type II with a COL2A1 Missense Mutation2025
2Prenatal Imaging of Micrognathia, Micromelia, and Fetal Hydrops Leading to the Diagnosis of Achondrogenesis Type II with a COL2A1 Missense Mutation2025
3Blended Phenotype Involving FBN1 and Novel PIGL Variants of Uncertain Significance: A Prenatal Case ReportCase Report · 2026
4Novel COL1A2 gene variant in a case of osteogenesis imperfecta II: a perinatal case reportCase Report · 2026
5[Genetic analysis of a fetus with Cornelia de Lange syndrome due to variant of SMC3 gene].2024 · 1 citations