Article
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
American journal of medical genetics. Part A - 1 Jul 2012
Thierry Gaelle, Bénéteau Claire, Pichon Olivier, Flori Elisabeth, Isidor Bertrand, Popelard Françoise, Delrue Marie-Ange, Duboscq-Bidot Laetitia, Thuresson Ann-Charlotte, van Bon Bregje W M, Cailley Dorothée, Rooryck Caroline, Paubel Agathe, Metay Corinne, Dusser Anne, Pasquier Laurent, Béri Mylène, Bonnet Céline, Jaillard Sylvie, Dubourg Christèle, Tou Bassim, Quéré Marie-Pierre, Soussi-Zander Cecilia, Toutain Annick, Lacombe Didier, Arveiler Benoit, de Vries Bert B A, Jonveaux Philippe, David Albert, Le Caignec Cédric
Abstract excerpt
Patients with a submicroscopic deletion at 1q43q44 present with intellectual disability (ID), microcephaly, craniofacial anomalies, seizures, limb anomalies, and corpus callosum abnormalities. However, the precise relationship between most of deleted genes and the clinical features in these patients still remains unclear. We studied 11 unrelated patients with 1q44 microdeletion. We showed that the deletions...
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