Prenatal presentation of glutaric aciduria type II: A case report with radiologic, clinical, biochemical, molecular, and pathological phenotyping

por Carmant, Laurence, Karalis, Aspasia, Rypens, Françoise, Oligny, Luc, Wavrant, Sandrine, Lapeyraque, Anne‐Laure, Codsi, Elisabeth
Publicado 2021

A case report of severe tuberous sclerosis complex detected in utero and linked to a novel duplication in the TSC2 gene

por Mongrain, Valérie, van Doesburg, Nicolaas H., Rypens, Françoise, Fallet-Bianco, Catherine, Maassen, Justine, Dufort-Gervais, Julien, Côté, Lucie, Major, Philippe
Publicado 2020