Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

Author:

Bachmann-Gagescu R,Dempsey J C,Phelps I G,O'Roak B J,Knutzen D M,Rue T C,Ishak G E,Isabella C R,Gorden N,Adkins J,Boyle E A,de Lacy N,O'Day D,Alswaid A,Ramadevi A Radha,Lingappa L,Lourenço C,Martorell L,Garcia-Cazorla À,Ozyürek H,Haliloğlu G,Tuysuz B,Topçu M,Chance P,Parisi M A,Glass I A,Shendure J,Doherty D,

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference53 articles.

1. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation;Joubert;Neurology,1969

2. Joubert Syndrome and related disorders;Brancati;Orphanet J Rare Dis,2010

3. Parisi MA , Glass I . Joubert syndrome and related disorders 2003. http://www.ncbi.nlm.nih.gov/books/NBK1325/

4. Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis;Boltshauser;Neuropadiatrie,1977

5. The molar tooth sign is pathognomonic for Joubert syndrome!;Poretti;Pediatr Neurol,2014

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