Article
Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.
Journal of medical genetics - 25 May 2026
Coudert Alicia, Le Tanno Pauline, Dufour William, Edery Patrick, Jacquette Aurelia, Delplancq Geoffroy, Chambon Pascale, Missirian Chantal, Caumes Roseline, Faivre Laurence, Callier Patrick, Mosca Anne-Laure, Marle Nathalie, Geneviève David, Lacombe Didier, Pebrel-Richard Céline, Redon Sylvia, Touraine Renaud, Fradin Melanie, Odent Sylvie, Pasquier Laurent, Guichet Agnès, Mercier Sandra, Nizon Mathilde, Isidor Bertrand, Vincent Marie, Le Guillou Horn Xavier Maximin, Egloff Matthieu, Schaefer Elise, Guerrot Anne-Marie, Ruaud Lyse, Chemaly Nicole, Nadeau Gwenaël, Coutton Charles, Dieterich Klaus
Abstract excerpt
BACKGROUND: Potocki-Lupski syndrome (PTLS) is a rare genetic disorder, with an estimated prevalence of 1:25 000. Detection of a duplication at position 17p11.2 comprising the RAI1 gene establishes the diagnosis. Deletion of this same region is responsible for Smith-Magenis syndrome (SMS). Hitherto, the non-specific clinical features included psychomotor and growth retardation and multiple congenital anomalies....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.