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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… Click to show full 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 two unrelated outbred Han–Chinese families.
Keywords:
col1a1 fetal;
mutations col1a1;
novel mutations;
genetic skeletal;
two novel;
fetal genetic
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2020
Link to full text (if available)
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2020
Link to full text (if available)
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recommendations!