Article
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Clinical genetics - 1 May 2024
Malbos Marlène, Wakeling Emma, Gautier Thierry, Boespflug-Tanguy Odile, Busby Louise, Taylor-Miller Tashunka, Dudoignon Benjamin, Bokov Plamen, Govin Jérôme, Grisval Margot, Rega Adélaïde, Mourot De Rougemont Marie-Gabrielle, Aubriot-Lorton Marie-Hélène, Darmency Véronique, Bensignor Candace, Houzel Anne, Huet Frédéric, Denommé-Pichon Anne-Sophie, Delanne Julian, Tran Mau-Them Frédéric, Bruel Ange-Line, Safraou Hana, Nambot Sophie, Garde Aurore, Philippe Christophe, Duffourd Yannis, Vitobello Antonio, Faivre Laurence, Thauvin-Robinet Christel
Abstract excerpt
Achaete-Scute Family basic-helix-loop-helix (bHLH) Transcription Factor 1 (ASCL1) is a proneural transcription factor involved in neuron development in the central and peripheral nervous system. While initially suspected to contribute to congenital central hypoventilation syndrome-1 (CCHS) with or without Hirschsprung disease (HSCR) in three individuals, its implication was ruled out by the presence, in one of...
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