A 3.1 Mb Microdeletion of 3p21.31 Associated with Cortical Blindness, Cleft Lip, CNS Abnormalities, and Developmental Delay

We report a 3.1 Mb de novo deletion of 3p21.31 in a 3 ½ year old female with cortical blindness, cleft lip, CNS abnormalities, and gross developmental delays. Examination of the region showed ~80 genes to be involved in the deletion. Functional analysis of the deleted genes suggests that several of...

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Detalhes bibliográficos
Publicado no:Eur J Med Genet
Main Authors: Haldeman-Englert, Chad R., Gai, Xiaowu, Perin, Juan Carlos, Ciano, Melissa, Halbach, Sara S., Geiger, Elizabeth A., McDonald-McGinn, Donna M., Hakonarson, Hakon, Zackai, Elaine H., Shaikh, Tamim H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4391973/
https://ncbi.nlm.nih.gov/pubmed/19100872
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2008.11.005
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