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Autor:
Sara Costantini, Gilles Morin, Guillaume Jedraszak, Emilie Lacot-Leriche, Amélie Piton, Florence Jobic, Anne-Gaëlle Le Moing, Michèle Mathieu-Dramard
Publikováno v:
American Journal of Medical Genetics Part A. 185:3877-3883
Kleefstra syndrome (KS) is a rare autosomic dominant genetic disorder caused by euchromatic histone methyltransferase 1 (EHMT1) alterations. Patients mainly present with moderate to severe intellectual disability, a severe delay in/or absence of spee