Severe presentation and complex brain malformations in an individual carrying a CCND2 variant

Gerarda Cappuccio1,2, Lorenzo Ugga3, Elena Parrini4

  • 1Department of Translational Medicine, Federico II University, Naples, Italy.

Summary

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) is a rare brain disorder. A new CCND2 gene variant caused severe brain malformations, including hypomyelination, expanding the known MPPH spectrum.

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