Prenatal diagnosis identifies compound heterozygous variants in RYR1 that causes ultrasound abnormalities in a fetus

Prenatal diagnosis identifies compound heterozygous variants in RYR1 that causes ultrasound abnormalities in a fetus

Abstract Objective We presented a non-consanguineous healthy Chinese couple with five pregnancies, three early miscarriages, the fetus II-2 and II-5 with similar abnormal phenotypes of fetal hydrops, scoliosis, fetal akinesia and polyhydramnios. This study aimed to uncover the molecular etiology of...

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Bibliographic Details
Main Authors: Qiuling Zhao, Xiaoduo Li, Li Liu, Xu Zhang, Xin Pan, Hong Yao, Yongyi Ma, Bo Tan
Format: Article
Language:English
Published: BMC 2022-09-01
Series:BMC Medical Genomics
Subjects:
Ryanodine receptor type 1 gene
RYR1-related disorders
Ultrasound abnormalities
Splice-site variant
Whole-exome sequencing
Online Access:https://doi.org/10.1186/s12920-022-01358-x

Internet

https://doi.org/10.1186/s12920-022-01358-x

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