Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese
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DOI: 10.1002/mgg3.1105
Abstract: Skeletal disorders, which have great genotypic and phenotypic varieties, are a considerable challenge to differentiate these diseases and provide a definitive prenatal diagnosis or pre‐implantation. The present study aims to identify the causative mutation in… read more here.
Keywords: col1a1 fetal; mutations col1a1; novel mutations; genetic skeletal ... See more keywords