Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development

Chiari malformation type I (CMI) is a congenital abnormality of the cranio-cerebral junction with an estimated incidence of 1 in 1280. CMI is characterized by underdevelopment of the occipital bone and posterior fossa (PF) and consequent cerebellar tonsil herniation. The presence for a genetic basis...

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Publicado en:Eur J Hum Genet
Autores principales: Merello, Elisa, Tattini, Lorenzo, Magi, Alberto, Accogli, Andrea, Piatelli, Gianluca, Pavanello, Marco, Tortora, Domenico, Cama, Armando, Kibar, Zoha, Capra, Valeria, De Marco, Patrizia
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2017
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5567145/
https://ncbi.nlm.nih.gov/pubmed/28513615
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.71
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