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

Chen, Chih-PingChih-PingChenTSANG-MING KOChang, Tung-YaoTung-YaoChangChern, Schu-RernSchu-RernChernChen, Shin-WenShin-WenChenLai, Shih-TingShih-TingLaiChuang, Tzu-YunTzu-YunChuangWang, WayseenWayseenWang2023-06-202023-06-202018-0210284559https://scholars.lib.ntu.edu.tw/handle/123456789/632908We 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).enDYNC2H1; SRTD3; Short-rib polydactyly syndrome type III; Targeted next-generation sequencing[SDGs]SDG3Prenatal 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 fetusjournal article10.1016/j.tjog.2017.12.021294588812-s2.0-85040951817https://api.elsevier.com/content/abstract/scopus_id/85040951817