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...

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Vydáno v:Am J Med Genet A
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2017
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Article
On-line přístup: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
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