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Autor:
Abymael Frontanes-Heredia, Wilfredo De Jesús-Rojas, Sherry L Santiago-Castro, Michael A Ramirez-Arenalde, Wilmarie J Bruckman-Blanco
Publikováno v:
Cureus
Birk-Barel syndrome, alternatively known as KCNK9 imprinting syndrome, is caused by a missense mutation in the potassium two pore domain channel subfamily K member 9 (KCNK9) gene on chromosome 8q24.3. This syndrome demonstrates dominant inheritance a