Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation - Concepedia

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Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation

DOI Full Paper Access

106

Citations

17

References

2010

Year

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

The American Journal of Human Genetics

Mendelian DisorderJoubert Syndrome 2Genetic DisorderGeneticsInherited Metabolic DiseaseGenetic EpidemiologyPathogenesisPathologyMolecular GeneticsDisease Gene IdentificationTmem216 MutationMedicineClinical Genetics

References

	Year	Citations

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