[HIGHLIGHTS] CTNNB1, the rare disease that camouflages itself

CTNNB1, the rare disease that camouflages itself. Marta de la Fuente had never heard of that disorder.

Her daughter Martita, who was 14 months old at the time, finally had a diagnosis. The disorder suffered by these children is caused by the alteration of chromosome 3p221 of the CTNNB 1 gene. This mutation in their DNA causes problems in their neurodevelopment, which implies delay in speech, motor and coordination problems, learning difficulties, seizures or sleep disturbances.