Article
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2022
van der Sluijs Pleuntje J, Joosten Marieke, Alby Caroline, Attié-Bitach Tania, Gilmore Kelly, Dubourg Christele, Fradin Mélanie, Wang Tianyun, Kurtz-Nelson Evangeline C, Ahlers Kaitlyn P, Arts Peer, Barnett Christopher P, Ashfaq Myla, Baban Anwar, van den Born Myrthe, Borrie Sarah, Busa Tiffany, Byrne Alicia, Carriero Miriam, Cesario Claudia, Chong Karen, Cueto-González Anna Maria, Dempsey Jennifer C, Diderich Karin E M, Doherty Dan, Farholt Stense, Gerkes Erica H, Gorokhova Svetlana, Govaerts Lutgarde C P, Gregersen Pernille A, Hickey Scott E, Lefebvre Mathilde, Mari Francesca, Martinovic Jelena, Northrup Hope, O'Leary Melanie, Parbhoo Kareesma, Patrier Sophie, Popp Bernt, Santos-Simarro Fernando, Stoltenburg Corinna, Thauvin-Robinet Christel, Thompson Elisabeth, Vulto-van Silfhout Anneke T, Zahir Farah R, Scott Hamish S, Earl Rachel K, Eichler Evan E, Vora Neeta L, Wilnai Yael, Giordano Jessica L, Wapner Ronald J, Rosenfeld Jill A, Haak Monique C, Santen Gijs W E
Abstract excerpt
PURPOSE: Genome-wide sequencing is increasingly being performed during pregnancy to identify the genetic cause of congenital anomalies. The interpretation of prenatally identified variants can be challenging and is hampered by our often limited knowledge of prenatal phenotypes. To better delineate the prenatal phenotype of Coffin-Siris syndrome (CSS), we collected clinical data from patients with a prenatal...
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