P249: Gaps in the phenotype descriptions of ultra-rare genetic conditions: Review and multi-center consensus reporting guidelines

oleh: Ali AlMail, Ahmed Jamjoom, Amy Pan, Anna Feng, Vann Chau, Alissa D'Gama, Katherine Howell, Nicole Si Yan Liang, Amy McTague, Annapurna Poduri, Kimberly Wiltrout, Anne Bassett, John Christodoulou, Lucie Dupuis, Peter Gill, Tess Levy, Paige Siper, Zornitza Stark, Jacob Vorstman, Catherine Diskin, Natalie Jewitt, Danielle Baribeau, Gregory Costain