Joubert syndrome: Congenital cerebellar ataxia with the molar tooth

The Lancet Neurology

Volumn 12, Issue 9, 2013, Pages 894-905

  Romani, Marta ^a   Micalizzi, Alessia ^a   Valente, Enza Maria ^a,b  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b UNIVERSITY OF SALERNO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMNESIA; APNEA; BARDET BIEDL SYNDROME; BRAIN DEVELOPMENT; BRAIN FUNCTION; CEREBELLAR ATAXIA; COGNITIVE DEFECT; DANDY WALKER SYNDROME; DIFFUSION TENSOR IMAGING; DYSOSTOSIS; EYE MOVEMENT DISORDER; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTELLECTUAL IMPAIRMENT; JOUBERT SYNDROME; LEARNING DISORDER; LEBER CONGENITAL AMAUROSIS; MECKEL SYNDROME; MISSENSE MUTATION; MOLAR TOOTH; MUSCLE HYPOTONIA; NEPHRONOPHTHISIS; NERVE CELL; NEUROIMAGING; NEUROLOGIC DISEASE; NEWBORN PERIOD; NONHUMAN; NYSTAGMUS; OCULAR MOTOR APRAXIA; PHENOTYPE; POLYDACTYLY; PRENATAL SCREENING; PREVALENCE; PRIORITY JOURNAL; REVIEW; STRABISMUS; TACHYPNEA; WNT SIGNALING PATHWAY;

CEREBELLAR DISEASES; EYE ABNORMALITIES; HUMANS; KIDNEY DISEASES, CYSTIC; RETINA;

EID: 84881544806     PISSN: 14744422     EISSN: 14744465     Source Type: Journal    
DOI: 10.1016/S1474-4422(13)70136-4     Document Type: Review

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