Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report
2011 · Orphanet Journal of Rare Diseases · 13 citations
https://doi.org/10.1186/1750-1172-6-7
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Barbara Gentilin
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Barbara Gentilin is an academic researcher from Presidio Ospedaliero. The author has contributed to research in topics: Prenatal Screening and Diagnostics & Genomic variations and chromosomal abnormalities & Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities. The author has an h-index of 16, co-authored 26 publications.
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