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Article

Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.

American journal of human genetics - 1 Jan 2010

Edvardson Simon, Shaag Avraham, Zenvirt Shamir, Erlich Yaniv, Hannon Gregory J, Shanske Alan L, Gomori John Moshe, Ekstein Joseph, Elpeleg Orly

Abstract excerpt

Patients with Joubert syndrome 2 (JBTS2) suffer from a neurological disease manifested by psychomotor retardation, hypotonia, ataxia, nystagmus, and oculomotor apraxia and variably associated with dysmorphism, as well as retinal and renal involvement. Brain MRI results show cerebellar vermis hypoplasia and additional anomalies of the fourth ventricle, corpus callosum, and occipital cortex. The disease has...

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Identifiers

PMID: 20036350
DOI: 10.1016/j.ajhg.2009.12.007
PMCID: PMC2801745

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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