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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...

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Main Authors: Mirzaa, Ghayda M., Paciorkowski, Alex R., Smyser, Christopher D., Willing, Marcia C., Lind, Anne C., Dobyns, William B.
Formáid: Artigo
Teanga:Inglês
Foilsithe: 2011
Ábhair:
Rochtain Ar Líne: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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