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The Microcephaly-Capillary Malformation Syndrome

We report on three children from two families with a new pattern recognition malformation syndrome consisting of severe congenital microcephaly (MIC), intractable epilepsy including infantile spasms, and generalized capillary malformations that was first reported recently in this journal [Carter et...

詳細記述

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書誌詳細
主要な著者: Mirzaa, Ghayda M., Paciorkowski, Alex R., Smyser, Christopher D., Willing, Marcia C., Lind, Anne C., Dobyns, William B.
フォーマット: Artigo
言語:Inglês
出版事項: 2011
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3428374/
https://ncbi.nlm.nih.gov/pubmed/21815250
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34118
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