Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis

por Oliver-Petit, Isabelle, Edouard, Thomas, Jacques, Virginie, Bournez, Marie, Cartault, Audrey, Grunenwald, Solange, Savagner, Frédérique
Publicado 2021

Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect

por Bernal Barquero, Carlos Eduardo, Geysels, Romina Celeste, Jacques, Virginie, Carro, Gerardo Hernán, Martín, Mariano, Peyret, Victoria, Abregú, María Celeste, Papendieck, Patricia, Masini-Repiso, Ana María, Savagner, Frédérique, Chiesa, Ana Elena, Citterio, Cintia E., Nicola, Juan Pablo
Publicado 2022