Defective ciliogenesis in INPP5E-related Joubert syndrome

Joubert Syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the pathognomonic molar tooth appearance of the brainstem and cerebellum on axial MRI. Core clinical manifestations include hypotonia, tachypnea/apnea, ataxia, ocular motor apraxia, a...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Hardee, Isabel, Soldatos, Ariane, Davids, Mariska, Vilboux, Thierry, Toro, Camilo, David, Karen L., Ferreira, Carlos R., Nehrebecky, Michele, Snow, Joseph, Thurm, Audrey, Heller, Theo, Macnamara, Ellen F., Gunay-Aygun, Meral, Zein, Wadih M., Gahl, William, Malicdan, May Christine V.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5685896/
https://ncbi.nlm.nih.gov/pubmed/29052317
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38376
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados