Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios-Reference-Cited by-同舟云学术

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

Published:2018-01-23 Issue:4 Volume:110 Page:364-371
ISSN:2472-1727
Container-title:Birth Defects Research
language:en
Short-container-title:Birth Defects Research

Author:

Deng Linbei¹,Cheung Sau Wai²,Schmitt Eric S.²,Xiong Shiyi¹,Yuan Meizhen¹,Chen Zhonghai³,Chen Lei³,Sun Luming¹^ORCID

Affiliation:

1. Department of Fetal Medicine Unit and Prenatal Diagnosis Center; Shanghai First Maternity and Infant Hospital of Tongji University; Shanghai China

2. Department of Molecular and Human Genetics; Baylor College of Medicine, One Baylor Plaza; Houston Texas

3. Beijing Genomics Institute at Shenzhen; Shenzhen Guangdong China

Funder

Key Disciplines Group Construction Project of Pudong Health Bureau of Shanghai

Publisher

Wiley

Subject

Health, Toxicology and Mutagenesis,Developmental Biology,Toxicology,Embryology,Pediatrics, Perinatology, and Child Health

Reference17 articles.

1. Nosology and classification of genetic skeletal disorders: 2015 revision;Bonafe;American Journal of Medical Genetics Part A,2015

2. Crystal structure of the dynein motor domain;Carter;Science,2011

3. Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing;Chen;Genetics and Molecular Research,2016

4. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III;Dagoneau;The American Journal of Human Genetics,2009

5. FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: Presentation of 17 cases;Hatzaki;American Journal of Medical Genetics Part A,2011

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families;Frontiers in Genetics;2023-03-17

2. Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis;BMC Medical Genomics;2022-03-12

3. The effect of polyhydramnios degree on chromosomal microarray results: a retrospective cohort analysis of 742 singleton pregnancies;Archives of Gynecology and Obstetrics;2021-02-16

4. Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies;American Journal of Medical Genetics Part A;2019-09-11

5. Early prenatal detection of short‐rib polydactyly syndrome in a monochorionic diamniotic twin pregnancy;Congenital Anomalies;2018-11-15

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