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Volumn 50, Issue 6, 2014, Pages

The molar tooth sign is pathognomonic for joubert syndrome!

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIA; AUTOPSY; CASE REPORT; CEREBELLUM VERMIS; CHILD; EYE MOVEMENT DISORDER; FACE DISORDER; FEMALE; HAMARTOMA; HUMAN; HYPERVENTILATION SYNDROME; INTELLECTUAL IMPAIRMENT; JOUBERT SYNDROME; LETTER; MOLAR TOOTH; MOUTH DISEASE; NEUROIMAGING; NOMENCLATURE; NUCLEAR MAGNETIC RESONANCE IMAGING; ORAL FACIAL DIGITAL SYNDROME TYPE VI; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SYNDACTYLY; TONGUE DISEASE; TONGUE HAMARTOMA; CEREBELLAR DISEASES; EYE ABNORMALITIES; KIDNEY DISEASES, CYSTIC; MULTIPLE MALFORMATION SYNDROME; PATHOPHYSIOLOGY; RETINA; TOOTH ABNORMALITIES;

EID: 84901189690     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2013.11.003     Document Type: Letter
Times cited : (32)

References (8)
  • 1
    • 84888303756 scopus 로고    scopus 로고
    • Molar tooth sign is not pathognomonic for Joubert syndrome
    • M.A. Dirik, U. Yis, and E. Dirik Molar tooth sign is not pathognomonic for Joubert syndrome Pediatr Neurol 49 2013 515 516
    • (2013) Pediatr Neurol , vol.49 , pp. 515-516
    • Dirik, M.A.1    Yis, U.2    Dirik, E.3
  • 2
    • 0014572497 scopus 로고
    • Familial dysgenesis of the vermis: A syndrome of hyperventilation, abnormal eye movements and retardation
    • M. Joubert, J.J. Eisenring, J.P. Robb, and F. Andermann Familial dysgenesis of the vermis: a syndrome of hyperventilation, abnormal eye movements and retardation Neurology 19 1969 813 825
    • (1969) Neurology , vol.19 , pp. 813-825
    • Joubert, M.1    Eisenring, J.J.2    Robb, J.P.3    Andermann, F.4
  • 3
    • 10744229593 scopus 로고    scopus 로고
    • Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes
    • J.G. Gleeson, L.C. Keeler, and M.A. Parisi et al. Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes Am J Med Genet A 125A 2004 125 134
    • (2004) Am J Med Genet A , vol.125 A , pp. 125-134
    • Gleeson, J.G.1    Keeler, L.C.2    Parisi, M.A.3
  • 4
    • 80052882184 scopus 로고    scopus 로고
    • Joubert syndrome and related disorders: Spectrum of neuroimaging findings in 75 patients
    • A. Poretti, T.A. Huisman, I. Scheer, and E. Boltshauser Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients AJNR Am J Neuroradiol 32 2011 1459 1463
    • (2011) AJNR Am J Neuroradiol , vol.32 , pp. 1459-1463
    • Poretti, A.1    Huisman, T.A.2    Scheer, I.3    Boltshauser, E.4
  • 5
    • 84881544806 scopus 로고    scopus 로고
    • Joubert syndrome: Congenital cerebellar ataxia with the molar tooth
    • M. Romani, A. Micalizzi, and E.M. Valente Joubert syndrome: congenital cerebellar ataxia with the molar tooth Lancet Neurol 12 2013 894 905
    • (2013) Lancet Neurol , vol.12 , pp. 894-905
    • Romani, M.1    Micalizzi, A.2    Valente, E.M.3
  • 7
    • 84855582627 scopus 로고    scopus 로고
    • Delineation and diagnostic criteria of oral-facial-digital syndrome type VI
    • A. Poretti, G. Vitiello, and R.C. Hennekam et al. Delineation and diagnostic criteria of oral-facial-digital syndrome type VI Orphanet J Rare Dis 7 2012 4
    • (2012) Orphanet J Rare Dis , vol.7 , pp. 4
    • Poretti, A.1    Vitiello, G.2    Hennekam, R.C.3
  • 8
    • 84894419058 scopus 로고    scopus 로고
    • C5orf42 is the major gene responsible for OFD syndrome type VI
    • E. Lopez, C. Thauvin-Robinet, and B. Reversade et al. C5orf42 is the major gene responsible for OFD syndrome type VI Hum Genet 133 2014 367 377
    • (2014) Hum Genet , vol.133 , pp. 367-377
    • Lopez, E.1    Thauvin-Robinet, C.2    Reversade, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.