Cyclopia: An Epidemiologic Study in a Large Dataset From the International Clearinghouse of Birth Defects Surveillance and Research

Cyclopia is characterized by the presence of a single eye, with varying degrees of doubling of the intrinsic ocular structures, located in the middle of the face. It is the severest facial expression of the holoprosencephaly (HPE) spectrum. This study describes the prevalence, associated malformatio...

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Udgivet i:Am J Med Genet C Semin Med Genet
Main Authors: Orioli, Iêda M., Amar, Emmanuelle, Bakker, Marian K., Bermejo-Sánchez, Eva, Bianchi, Fabrizio, Canfield, Mark A., Clementi, Maurizio, Correa, Adolfo, Csáky-Szunyogh, Melinda, Feldkamp, Marcia L., Landau, Danielle, Leoncini, Emanuele, Li, Zhu, Lowry, R. Brian, Mastroiacovo, Pierpaolo, Morgan, Margery, Mutchinick, Osvaldo M., Rissmann, Anke, Ritvanen, Annukka, Scarano, Gioacchino, Szabova, Elena, Castilla, Eduardo E.
Format: Artigo
Sprog:Inglês
Udgivet: 2011
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4484722/
https://ncbi.nlm.nih.gov/pubmed/22006661
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.30323
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