Article
Autosomal recessive primary microcephaly due to ASPM mutations: An update.
Human mutation - 1 Mar 2018
Létard Pascaline, Drunat Séverine, Vial Yoann, Duerinckx Sarah, Ernault Anais, Amram Daniel, Arpin Stéphanie, Bertoli Marta, Busa Tiffany, Ceulemans Berten, Desir Julie, Doco-Fenzy Martine, Elalaoui Siham Chafai, Devriendt Koenraad, Faivre Laurence, Francannet Christine, Geneviève David, Gérard Marion, Gitiaux Cyril, Julia Sophie, Lebon Sébastien, Lubala Toni, Mathieu-Dramard Michèle, Maurey Hélène, Metreau Julia, Nasserereddine Sanaa, Nizon Mathilde, Pierquin Geneviève, Pouvreau Nathalie, Rivier-Ringenbach Clothilde, Rossi Massimiliano, Schaefer Elise, Sefiani Abdelaziz, Sigaudy Sabine, Sznajer Yves, Tunca Yusuf, Guilmin Crepon Sophie, Alberti Corinne, Elmaleh-Bergès Monique, Benzacken Brigitte, Wollnick Bernd, Woods C Geoffrey, Rauch Anita, Abramowicz Marc, El Ghouzzi Vincent, Gressens Pierre, Verloes Alain, Passemard Sandrine
Abstract excerpt
Autosomal recessive microcephaly or microcephaly primary hereditary (MCPH) is a genetically heterogeneous neurodevelopmental disorder characterized by a reduction in brain volume, indirectly measured by an occipitofrontal circumference (OFC) 2 standard deviations or more below the age- and sex-matched mean (-2SD) at birth and -3SD after 6 months, and leading to intellectual disability of variable severity. The...
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