First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center
Juan Francisco Quesada‐Espinosa, L. Suárez Garzón, José Miguel Lezana Rosales, María José Gómez-Rodríguez, María Teresa Sánchez‐Calvín, Carmen Palma Milla, Irene Gómez-Manjón, Irene Hidalgo Mayoral, Rubén Pérez de la Fuente, Ana Arteche‐López, María Isabel Álvarez‐Mora, Ana Camacho, Jaime Cruz‐Rojo, Irene Rodríguez, Montserrat Morales‐Conejo, Noemí Núñez‐Enamorado, Ana Bustamante‐Aragonés, Rogelio Simón de las Heras, María Ángeles Gómez‐Cano, Patricia Ramos-Gómez, Ollalla Sierra-Tomillo, Alexandra Juárez-Rufián, J. Gallego‐Merlo, Laura Rausell-Sánchez, Marta Moreno‐García, Jaime Sánchez del Pozo
Topics & Concepts
X-inactivationBiologyGeneticsGeneExonHuman geneticsXISTPhenotypeX chromosomeThyroidChromosomeAsymptomaticInternal medicineMedicineGenetics and Neurodevelopmental DisordersGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesThyroid Disorders and Treatments