Article
Genetic analysis of 55 cases with fetal skeletal dysplasia
9 Nov 2022
Abstract excerpt
BACKGROUND: Fetal skeletal dysplasia (SD) is a common congenital disability comprising a complex group of skeletal disorders with substantial clinical and genetic heterogeneity. Many of these defects are detected prenatally using ultrasound (US). However, the diagnostic accuracy of the US is limited. METHODS: We recruited 55 unrelated fetuses with US-detected skeletal anomalies and performed sequential tests...
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