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Article

Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel.

Prenatal diagnosis - 1 Aug 2018

Zhou Xinyao, Chandler Natalie, Deng Linbei, Zhou Jia, Yuan Meizhen, Sun Luming

Abstract excerpt

OBJECTIVE: This study aimed to perform an accurate and precise diagnosis for fetuses with suspected skeletal anomalies based on an incomplete and limited ultrasound phenotype. METHODS: Proband-only targeted skeletal gene panel sequencing was performed on 12 families who had fetuses with suspected skeletal anomalies based on ultrasound evaluations at a mean gestational age of 24 weeks and 3 days. The fetuses all...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29907962
DOI: 10.1002/pd.5298

Genes

FGFR3
IHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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