Article
Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.
Clinical genetics - 1 Mar 2021
Garde Aurore, Cornaton Jenny, Sorlin Arthur, Moutton Sébastien, Nicolas Claire, Juif Christine, Geneviève David, Perrin Laurence, Khau-Van-Kien Philippe, Smol Thomas, Vincent-Delorme Catherine, Isidor Bertrand, Cogné Benjamin, Afenjar Alexandra, Keren Boris, Coubes Christine, Prieur Fabienne, Toutain Annick, Trousselet Yann, Bourgouin Solène, Gonin-Olympiade Coralie, Giraudat Kim, Piton Amélie, Gérard Bénédicte, Odent Sylvie, Tessier Fanny, Lemasson Lola, Heide Solveig, Gelineau Anne-Claire, Sarret Catherine, Miret Anne, Schaefer Elise, Piard Juliette, Mathevet Rémi, Boucon Marion, Bruel Ange-Line, Mau-Them Frederic Tran, Chevarin Martin, Vitobello Antonio, Philippe Christophe, Thauvin-Robinet Christel, Faivre Laurence
Abstract excerpt
White-Sutton syndrome is a rare developmental disorder characterized by global developmental delay, intellectual disabilities (ID), and neurobehavioral abnormalities secondary to pathogenic pogo transposable element-derived protein with zinc finger domain (POGZ) variants. The purpose of our study was to describe the neurocognitive phenotype of an unbiased national cohort of patients with identified POGZ...
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