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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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| 出版年: | Mol Genet Genomic Med |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2019
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| 主題: | |
| オンライン･アクセス: | 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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