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Discovery, Diagnosis, and Etiology of Craniofacial Ciliopathies

Seventy-five percent of congenital disorders present with some form of craniofacial malformation. The frequency and severity of these malformations makes understanding the etiological basis crucial for diagnosis and treatment. A significant link between craniofacial malformations and primary cilia a...

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Detalles Bibliográficos
Publicado en:Cold Spring Harb Perspect Biol
Main Authors: Schock, Elizabeth N., Brugmann, Samantha A.
Formato: Artigo
Idioma:Inglês
Publicado: Cold Spring Harbor Laboratory Press 2017
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5585846/
https://ncbi.nlm.nih.gov/pubmed/28213462
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/cshperspect.a028258
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