Article
Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.
American journal of medical genetics. Part A - 1 Mar 2017
Maillard Camille, Cavallin Mara, Piquand Kevin, Philbert Marion, Bault Jean Philippe, Millischer Anne Elodie, Moshous Despina, Rio Marlène, Gitiaux Cyril, Boddaert Nathalie, Masson Cecile, Thomas Sophie, Bahi-Buisson Nadia
Abstract excerpt
EPG5-related Vici syndrome is a rare multisystem autosomal recessive disorder characterized by corpus callosum agenesis (ACC), hypopigmentation, cataracts, acquired microcephaly, failure to thrive, cardiomyopathy and profound developmental delay, and immunodeficiency. We report here the first case of prenatally diagnosed Vici syndrome with delayed gyration associated with ACC. Trio based exome sequencing allowed...
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