Publication
Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases
Morten Alstrup, Fabrizia Cesca, Alicja Krawczun-Rygmaczewska, Celia López-Menéndez, Julia Pose-Utrilla, Filip Christian Castberg, Mia Ortved Bjerager, Candice Finnila, Michael C. Kruer, Somayeh Bakhtiari, Sergio Padilla-Lopez, Linda Manwaring, Boris Keren, Alexandra Afenjar, Daniele Galatolo, Roberta Scalise, Fillippo M. Santorelli, Amelle Shillington, Myriam Vezain, Jelena Martinovic, Cathy Stevens, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Isabelle Thiffault, Tomi Pastinen, Kristin Baranano, Angela Lee, Jorge Granadillo, Megan R. Glassford, Catherine E. Keegan, Nicole Matthews, Pascale Saugier-Veber, Teresa Iglesias, Elsebet Østergaard
Genetics in Medicine, November 2024, Elsevier
DOI: 10.1016/j.gim.2024.101219