Etiological Involvement of KCND1 Variants in an X-linked Neurodevelopmental Disorder with Variable Expressivity
Tassja Kalm,Claudia Schob, Hanna Voeller,Thatjana Gardeitchik,Christian Gilissen,Rolph Pfundt,Chiara Kloeckner,Konrad Platzer,Annick Klabunde-Cherwon,Markus Ries,Steffen Syrbe,Francesca Beccaria,Francesca Madia,Marcello Scala,Federico Zara,Floris Hofstede,Marleen E. H. Simon,Richard H. van Jaarsveld,Renske Oegema,Koen L. I. van Gassen,Sjoerd J. B. Holwerda,Tahsin Stefan Barakat,Arjan Bouman,Marjon van Slegtenhorst,Sara Alvarez,Alberto Fernandez-Jaen, Javier Porta,Andrea Accogli,Margherita Maria Mancardi,Pasquale Striano,Michele Iacomino,Jong-Hee Chae,SeSong Jang,Soo Y. Kim,David Chitayat,Saadet Mercimek-Andrews,Christel Depienne,Antje Kampmeier,Alma Kuechler,Harald Surowy,Enrico Silvio Bertini,Francesca Clementina Radio,Cecilia Mancini,Simone Pizzi,Marco Tartaglia, Lucas Gauthier,David Genevieve,Mylene Tharreau,Noy Azoulay, Gal Zaks-Hoffer, Nesia K. Gilad,Naama Orenstein,Genevieve Bernard,Isabelle Thiffault,Jonas Denecke,Theresia Herget,Fanny Kortum,Christian Kubisch,Robert Bahring,Stefan Kindler The American Journal of Human Genetics（2024）
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