A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication
Article in Frontiers in Genetics (March 2024)
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Article in Frontiers in Genetics (March 2024)
Article in Orphanet Journal of Rare Diseases (March 2024)
Preprint in arXiv (February 2023)