Article
FOXP1-related intellectual disability syndrome: a recognisable entity.
Journal of medical genetics - 1 Sept 2017
Meerschaut Ilse, Rochefort Daniel, Revençu Nicole, Pètre Justine, Corsello Christina, Rouleau Guy A, Hamdan Fadi F, Michaud Jacques L, Morton Jenny, Radley Jessica, Ragge Nicola, García-Miñaúr Sixto, Lapunzina Pablo, Bralo Maria Palomares, Mori Maria Ángeles, Moortgat Stéphanie, Benoit Valérie, Mary Sandrine, Bockaert Nele, Oostra Ann, Vanakker Olivier, Velinov Milen, de Ravel Thomy Jl, Mekahli Djalila, Sebat Jonathan, Vaux Keith K, DiDonato Nataliya, Hanson-Kahn Andrea K, Hudgins Louanne, Dallapiccola Bruno, Novelli Antonio, Tarani Luigi, Andrieux Joris, Parker Michael J, Neas Katherine, Ceulemans Berten, Schoonjans An-Sofie, Prchalova Darina, Havlovicova Marketa, Hancarova Miroslava, Budisteanu Magdalena, Dheedene Annelies, Menten Björn, Dion Patrick A, Lederer Damien, Callewaert Bert
Abstract excerpt
BACKGROUND: Mutations in forkhead box protein P1 (FOXP1) cause intellectual disability (ID) and specific language impairment (SLI), with or without autistic features (MIM: 613670). Despite multiple case reports no specific phenotype emerged so far. METHODS: We correlate clinical and molecular data of 25 novel and 23 previously reported patients with FOXP1 defects. We evaluated FOXP1 activity by an in vitro...
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