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Mutation spectrum of Joubert syndrome and related disorders among Arabs

Joubert syndrome (JS) is a rare autosomal recessive (AR), neurological condition characterized by dysgenesis of the cerebellar vermis with the radiological hallmark of molar tooth sign, oculomotor apraxia, recurrent hyperventilation and intellectual disability. Most cases display a broad spectrum of...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Hum Genome Var
Egile Nagusiak: Ben-Salem, Salma, Al-Shamsi, Aisha M, Gleeson, Joseph G, Ali, Bassam R, Al-Gazali, Lihadh
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2014
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785524/
https://ncbi.nlm.nih.gov/pubmed/27081510
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2014.20
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