Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Emilie Lacot-Leriche"'
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
Autor:
Jobic, Florence, Lacot‐Leriche, Emilie, Piton, Amélie, Le Moing, Anne‐Gaëlle, Mathieu‐Dramard, Michèle, Costantini, Sara, Morin, Gilles, Jedraszak, Guillaume
Publikováno v:
American Journal of Medical Genetics. Part A; Dec2021, Vol. 185 Issue 12, p3877-3883, 7p
Publikováno v:
American Journal of Medical Genetics. Part A; Dec2021, Vol. 185 Issue 12, p3517-3524, 8p