Prenatal Diagnosis of Short-Rib Thoracic Dysplasia (SRTD): Identification of a Novel Homozygous Missense Mutation in the DYNC2I1 Gene by Clinical Exome Sequencing

Shiyao Xian; Qi Zhao; Yanfang Li; Lihua Li; Zhongwei Li; Miaolian Zhang; Suihua Feng; Qiang Zhao

doi:10.22541/au.176760213.33419342/v1

Prenatal Diagnosis of Short-Rib Thoracic Dysplasia (SRTD): Identification of a Novel Homozygous Missense Mutation in the DYNC2I1 Gene by Clinical Exome Sequencing

2026 Preprint Open access

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Authors: Shiyao Xian, Qi Zhao, Yanfang Li, Lihua Li, Zhongwei Li, Miaolian Zhang, Suihua Feng, Qiang Zhao

DOI: 10.22541/au.176760213.33419342/v1

Cited by: 0

Abstract

1 IntroductionPrimary cilia are antenna-like organelles extending from the surface of various eukaryotic cells; they are able to sense external signals and relay developmental and homeostatic signaling pathways[1, 2]. Their complex structure may consi

Fields of Study & Subjects

Genetic and Kidney Cyst Diseases Cystic Fibrosis Research Advances Connective tissue disorders research

Publication details

Publication date: 5 January 2026
Document type: Preprint