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    • A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome 

      Torrado, Mario; Fernández, Germán; Ganoza, Christian A.; Maneiro, Emilia; García, Diego; Sonicheva-Paterson, Natalia; Rosa, Isaac; Ochoa, Juan Pablo; Santomé, Luis; Vasichkina, Elena; Monserrat, Lorenzo (Nature, 2021-03-04)
      [Abstract] Here we report an infant with clinical findings suggestive of Jervell and Lange-Nielsen syndrome (JLNS), including a prolonged QT interval (LQTS) and chronic bilateral sensorineural deafness. NGS analysis revealed ...