A review of structural brain abnormalities in Pallister‐Killian syndrome

BACKGROUND: Pallister‐Killian syndrome (PKS) is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associated with neurological defects. METHODS: We describe two patients with PKS, one of whom has bilateral perisylvian polymicrogyria (P...

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發表在:Mol Genet Genomic Med
Main Authors: Poulton, Cathryn, Baynam, Gareth, Yates, Clarissa, Alinejad‐Rokny, Hamid, Williams, Simon, Wright, Helen, Woodward, Karen J., Sivamoorthy, Soruba, Peverall, Joanne, Shipman, Peter, Ravine, David, Beilby, John, Heng, Julian Ik‐Tsen
格式: Artigo
語言:Inglês
出版: John Wiley and Sons Inc. 2017
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Original Articles
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5823685/
https://ncbi.nlm.nih.gov/pubmed/29222831
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.351
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