Molecular analysis of 31 cases with fetal skeletal dysplasia.

Abstract excerpt

OBJECTIVES: The aim of this study was to describe the prenatal ultrasound findings of fetuses with skeletal dysplasia and to evaluate the genetic variations by molecular genetic analysis. METHODS: Between August 1, 2018 and March 1, 2023, we conducted a retrospective case series at a tertiary referral center involving patients with fetal skeletal abnormalities. For cases referred for a possible diagnosis of fetal...

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• Bone Diseases, Developmental
• Exome Sequencing
• Mutation
• Pregnancy
• Ultrasonography, Prenatal