Short-rib polydactyly syndrome presenting with recurrent severe first-trimester phenotypes: the utility of exome sequencing in deciphering variants of DYNC2H1 gene-Reference-Cited by-同舟云学术

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

Published:2019-10-14 Issue:6 Volume:40 Page:874-876
ISSN:0144-3615
Container-title:Journal of Obstetrics and Gynaecology
language:en
Short-container-title:Journal of Obstetrics and Gynaecology

Author:

He Yi¹,Li Yu-Juan¹,Xu Li-Li²,Li Dong-Zhi²

Affiliation:

1. Prenatal Diagnosis Center, Dongguan Maternal and Children Healthcare Hospital, Dongguan, China;

2. Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China

Publisher

Informa UK Limited

Subject

Obstetrics and Gynecology

Link

https://www.tandfonline.com/doi/pdf/10.1080/01443615.2019.1655722

Reference9 articles.

1. Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus

2. Recurrent short rib polydactyly syndrome

3. Ciliary disorder of the skeleton

4. Effectiveness of 12-13-week scan for early diagnosis of fetal congenital anomalies in the cell-free DNA era

5. The performance of an intermediate 16th-week ultrasound scan for the follow-up of euploid fetuses with increased nuchal translucency

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