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Comprehensive study of 28 individuals with *SIN3A*-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

Medicine and Health

Comprehensive study of 28 individuals with *SIN3A*-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

M. Balasubramanian, A. J. M. Dingemans, et al.

Explore the newly defined Witteveen-Kolk syndrome, a rare neurodevelopmental challenge linked to *SIN3A* mutations. This study investigates clinical and neurodevelopmental phenotypes in 28 patients, revealing a spectrum of intellectual disabilities and associated neurological symptoms. The vital role of multidisciplinary teams in patient management is emphasized by the team of expert researchers including Meena Balasubramanian and Alexander J. M. Dingemans.

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