Article
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
Journal of medical genetics - 29 Aug 2024
Cuinat Silvestre, Quélin Chloé, Effray Claire, Dubourg Christèle, Le Bouar Gwenaelle, Cabaret-Dufour Anne-Sophie, Loget Philippe, Proisy Maia, Sauvestre Fanny, Sarreau Mélie, Martin-Berenguer Sophie, Beneteau Claire, Naudion Sophie, Michaud Vincent, Arveiler Benoit, Trimouille Aurélien, Macé Pierre, Sigaudy Sabine, Glazunova Olga, Torrents Julia, Raymond Laure, Saint-Frison Marie-Hélène, Attié-Bitach Tania, Lefebvre Mathilde, Capri Yline, Bourgon Nicolas, Thauvin-Robinet Christel, Tran Mau-Them Frédéric, Bruel Ange-Line, Vitobello Antonio, Denommé-Pichon Anne-Sophie, Faivre Laurence, Brehin Anne-Claire, Goldenberg Alice, Patrier-Sallebert Sophie, Perani Alexandre, Dauriat Benjamin, Bourthoumieu Sylvie, Yardin Catherine, Marquet Valentine, Barnique Marion, Fiorenza-Gasq Maryse, Marey Isabelle, Tournadre Danielle, Doumit Raïa, Nugues Frédérique, Barakat Tahsin Stefan, Bustos Francisco, Jaillard Sylvie, Launay Erika, Pasquier Laurent, Odent Sylvie
Abstract excerpt
INTRODUCTION: Tonne-Kalscheuer syndrome (TOKAS) is a recessive X-linked multiple congenital anomaly disorder caused by RLIM variations. Of the 41 patients reported, only 7 antenatal cases were described. METHOD: After the antenatal diagnosis of TOKAS by exome analysis in a family followed for over 35 years because of multiple congenital anomalies in five male fetuses, a call for collaboration was made, resulting...
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