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Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios.

Birth defects research - 1 Mar 2018

Deng Linbei, Cheung Sau Wai, Schmitt Eric S, Xiong Shiyi, Yuan Meizhen, Chen Zhonghai, Chen Lei, Sun Luming

Abstract excerpt

BACKGROUND: Genetic skeletal disorders (GSDs) are clinically and genetically heterogeneous with more than 350 genes accounting for the diversity of disease phenotypes. Prenatal diagnosis of these disorders has been challenging because of the limited but variable prenatal phenotypes, highlighting the need of a novel genetic approach. Short-rib polydactyly syndrome (SRPS) Type III is an autosomal recessive GSD...

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PMID: 29359448
DOI: 10.1002/bdr2.1146

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

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Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios.PMID 29359448Read ↗

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