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

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 to date....

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Bibliographic Details
Published in:Mol Genet Genomic Med
Main Authors: Cappuccio, Gerarda, Ugga, Lorenzo, Parrini, Elena, D’Amico, Alessandra, Brunetti‐Pierri, Nicola
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2019
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Original Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6565554/
https://ncbi.nlm.nih.gov/pubmed/31056854
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.708
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