Associated Papers
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
40567897 (PubMed )
Supplement: Supplementaryfile1.xls › Sheet1
Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield.
Zhang X et al.
Prenatal Diagnosis, 2021
Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese.
Li R et al.
Molecular Genetics & Genomic Medicine, 2020
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