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pro vyhledávání: '"Cristina Naranjo Fernandez"'
Autor:
Cristina Naranjo Fernandez, Pablo Antonio Quiroga Subirana, Manuel Payan Ortiz, Pedro Jesus Serrano Castro
Publikováno v:
Seizure. 19(2)
Vohwinkel Syndrome (VS) is a type of diffuse hereditary palmoplantar keratodermas (DHPPK) accompanied by skeletal dimorphisms and sensorineural deafness. The most frequently reported genetic substrate in VS is a point mutation of GJB2 gene, responsib