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Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature
Ghesh, Leila, Vincent, Marie, Delemazure, Anne‐Sophie, Boyer, Julie, Corre, Pierre, Perez, Fabienne, Geneviève, David, Laplanche, Jean‐Louis, Collet, Corinne, Isidor, BertrandJournal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.61147
Date:
April, 2019
File:
PDF, 833 KB
2019