Severe presentation and complex brain malformations in an individual carrying a CCND2 variant
Abstract Background Megalencephaly‐polymicrogyria‐polydactyly‐hydrocephalus (MPPH) is a developmental brain disorder characterized by megalencephaly and bilateral perisylvian polymicrogyria due to defects in genes of the PI3K‐AKT pathway. Only a few patients with CCND2 mutations have been reported t...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2019-06-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.708 |