CELSR2, Encoding a Planar Cell Polarity Protein, Is a Putative Gene in Joubert Syndrome with Cortical Heterotopia, Microophthalmia, and Growth Hormone Deficiency

Joubert syndrome is a ciliopathy characterized by a specific constellation of central nervous system malformations that result in the pathognomonic “molar tooth sign” on imaging. More than 27 genes are associated with Joubert syndrome, but some patients do not have mutations in any of these genes. C...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Vilboux, Thierry, Malicdan, May Christine V., Roney, Joseph C., Cullinane, Andrew R., Stephen, Joshi, Yildirimli, Deniz, Bryant, Joy, Fischer, Roxanne, Vemulapalli, Meghana, Mullikin, James C., Steinbach, Peter J., Gahl, William A., Gunay-Aygun, Meral
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7299154/
https://ncbi.nlm.nih.gov/pubmed/28052552
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38005
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