Clinical utility gene card for: Joubert Syndrome-update 2013
EM Valente, F Brancati, E Boltshauser… - European Journal of …, 2013 - nature.com
EM Valente, F Brancati, E Boltshauser, B Dallapiccola
European Journal of Human Genetics, 2013•nature.com1. DISEASE CHARACTERISTICS 1.1 Name of the disease (synonyms) Joubert syndrome
(JS); Joubert-Boltshauser syndrome; Joubert syndrome-related disorders (JSRD), including
cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and
hepatic fibrosis (COACH) syndrome; cerebellooculorenal, or cerebello-oculorenal (COR)
syndrome; Dekaban-Arima syndrome; Váradi-Papp syndrome or Orofaciodigital type VI
(OFDVI) syndrome; Malta syndrome.
(JS); Joubert-Boltshauser syndrome; Joubert syndrome-related disorders (JSRD), including
cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and
hepatic fibrosis (COACH) syndrome; cerebellooculorenal, or cerebello-oculorenal (COR)
syndrome; Dekaban-Arima syndrome; Váradi-Papp syndrome or Orofaciodigital type VI
(OFDVI) syndrome; Malta syndrome.
1. DISEASE CHARACTERISTICS 1.1 Name of the disease (synonyms) Joubert syndrome (JS); Joubert-Boltshauser syndrome; Joubert syndrome-related disorders (JSRD), including cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis (COACH) syndrome; cerebellooculorenal, or cerebello-oculorenal (COR) syndrome; Dekaban-Arima syndrome; Váradi-Papp syndrome or Orofaciodigital type VI (OFDVI) syndrome; Malta syndrome.
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