Article
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
Molecular genetics & genomic medicine - 1 Sept 2021
Duerinckx Sarah, Désir Julie, Perazzolo Camille, Badoer Cindy, Jacquemin Valérie, Soblet Julie, Maystadt Isabelle, Tunca Yusuf, Blaumeiser Bettina, Ceulemans Berten, Courtens Winnie, Debray François-Guillaume, Destree Anne, Devriendt Koenraad, Jansen Anna, Keymolen Kathelijn, Lederer Damien, Loeys Bart, Meuwissen Marije, Moortgat Stéphanie, Mortier Geert, Nassogne Marie-Cécile, Sekhara Tayeb, Van Coster Rudy, Van Den Ende Jenny, Van der Aa Nathalie, Van Esch Hilde, Vanakker Olivier, Verhelst Helene, Vilain Catheline, Weckhuysen Sarah, Passemard Sandrine, Verloes Alain, Aeby Alec, Deconinck Nicolas, Van Bogaert Patrick, Pirson Isabelle, Abramowicz Marc
Abstract excerpt
BACKGROUND: Primary microcephaly (PM) is defined as a significant reduction in occipitofrontal circumference (OFC) of prenatal onset. Clinical and genetic heterogeneity of PM represents a diagnostic challenge. METHODS: We performed detailed phenotypic and genomic analyses in a large cohort (n = 169) of patients referred for PM and could establish a molecular diagnosis in 38 patients. RESULTS: Pathogenic variants...
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