Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both th...

por Baz-Redón, Noelia, Soler-Colomer, Laura, Fernández-Cancio, Mónica, Benito-Sanz, Sara, Garrido, Marta, Moliné, Teresa, Clemente, María, Camats-Tarruella, Núria, Yeste, Diego
Publicado 2022