Short-rib polydactyly syndrome presenting with recurrent severe first-trimester phenotypes: the utility of exome sequencing in deciphering variants of DYNC2H1 gene

Yi HePrenatal Diagnosis Center, Dongguan Maternal and Children Healthcare Hospital, Dongguan, China; View further author information

Yu-Juan LiPrenatal Diagnosis Center, Dongguan Maternal and Children Healthcare Hospital, Dongguan, China; View further author information

Li-Li XuPrenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, ChinaView further author information

Dong-Zhi LiPrenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, ChinaCorrespondence[email protected]
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The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the article.

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This study was supported by a grant from the Guangzhou Institute of Pediatrics/Guangzhou Women and Children’s Medical Center [IP-2019-004].

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Short-rib polydactyly syndrome presenting with recurrent severe first-trimester phenotypes: the utility of exome sequencing in deciphering variants of DYNC2H1 gene

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Short-rib polydactyly syndrome presenting with recurrent severe first-trimester phenotypes: the utility of exome sequencing in deciphering variants of DYNC2H1 gene

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