Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations

作者：Eva Vanbelleghem, Tim Van Damme, Aude Beyens, Sofie Symoens, Kathleen Claes, Julie F A De Backer, Ilse Meerschaut, Floris Vanommeslaeghe, Sigurd E. Delanghe, Jenneke van den Ende, Tessi Beyltjens, Eleanor R. Scimone, Mark Evan Lindsay, Lisa A. Schimmenti, Alicia M. Hinze, Emily Dunn, Natalia Gomez‐Ospina, Isabelle Vandernoot, Thomas Delguste, Sandra Coppens, Valérie Cormier‐Daire, Marco Tartaglia, Livia Garavelli, Joseph T.C. Shieh, Şenol Demir, Esra Arslan Ateş, Martin Zenker, Mersedeh Rohanizadegan, Greysha Rivera-Cruz, Sofia Douzgou, Justin Smith, Jessica Simkins, Don Clark, Stephanie Karatsinides, Sandy Taylor, Ines White, Patti Schultz, Kate Wears, Levi Holder, Kathy Young, Angela E. Lin, Bert Callewaert · 发表于：European Journal of Human Genetics · 年份：2024 · DOI：10.1038/s41431-024-01664-1 · 被引用次数：10 · 研究领域：Connective tissue disorders research、Genomics and Rare Diseases、Congenital heart defects research