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
Journal
Taiwanese journal of obstetrics & gynecology
Journal Volume
57
Journal Issue
1
Date Issued
2018-02
Author(s)
Chen, Chih-Ping
Chang, Tung-Yao
Chern, Schu-Rern
Chen, Shin-Wen
Lai, Shih-Ting
Chuang, Tzu-Yun
Wang, Wayseen
Abstract
We present the perinatal imaging findings and molecular genetic analysis in a fetus with short-rib polydactyly syndrome (SRPS) type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3).
Subjects
DYNC2H1; SRTD3; Short-rib polydactyly syndrome type III; Targeted next-generation sequencing
SDGs
Type
journal article