Associated Papers
Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis.
Huang W et al.
Bmc Medical Genomics, 2023
Genetic variations in the DYNC2H1 gene causing SRTD3 (short-rib thoracic dysplasia 3 with or without polydactyly).
Chen W et al.
Frontiers in Genetics, 2023
Genetic analysis of 55 cases with fetal skeletal dysplasia.
Bai Y et al.
Orphanet Journal of Rare Diseases, 2022
36352425 (PubMed )
Supplement: 13023_2022_2559_MOESM1_ESM.xlsx › Table_S3.
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
Zhang W et al.
Human Mutation, 2018
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