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P460: Case series of Nizon-Isidor syndrome by heterozygous variants in MED12L with one case generating chromosomal instability through diploid-triploid mosaicism by Russell Stewart, Kimberly Ezell, Brian Corner, Ashley McMinn, Joy Cogan, Rizwan Hamid, Lynette Rives, John Phillips, Nina Paddu, Gitanjali Srivastava, Ronit Marom, Farah Ladha, Claudia Soler-Alfonso, Rachel Franciskovich, Mary Koziura, Deanna Bell, Sumit Pruthi, Thomas Cassini
Published 2025-01-01Get full text
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