Prenatal diagnosis of skeletal dysplasias using whole exome sequencing in China
Jia Tang, Chenglong Zhou, Haihong Shi, Yuying Mo, Weilan Tan, Tielan Sun, Jinling Zhu, Li Q, Hui Li, Yuping Li, Songbai Wang, Yan Hong, Ning Li, Qinlong Zeng, Jieliang Tan, Wei Ma, Liangping Luo
Topics & Concepts
ProbandExome sequencingPrenatal diagnosisSanger sequencingGenetic counselingMedicineFetusGeneticsBioinformaticsPathologyPhenotypeBiologyMutationPregnancyGeneConnective tissue disorders researchPrenatal Screening and DiagnosticsGenomics and Rare Diseases