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Volumn 167, Issue 4, 2008, Pages 475-477

Rare association of Hirschsprung's disease and Joubert syndrome

Author keywords

Hirschsprung's disease; Joubert syndrome; Neurocristopathy

Indexed keywords

ARTICLE; CASE REPORT; COLON RESECTION; CONSANGUINEOUS MARRIAGE; DISEASE ASSOCIATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HIRSCHSPRUNG DISEASE; HISTOPATHOLOGY; HUMAN; ILEOCECAL VALVE; JOUBERT SYNDROME; MALE; NERVE CELL; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION;

EID: 40049088360     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-007-0504-1     Document Type: Article
Times cited : (10)

References (9)
  • 1
    • 0034764984 scopus 로고    scopus 로고
    • Hirschsprung disease, associated syndromes, and genetics: A review
    • Amiel J, Lyonnet S (2001) Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet 38:729-739
    • (2001) J Med Genet , vol.38 , pp. 729-739
    • Amiel, J.1    Lyonnet, S.2
  • 2
    • 0014572497 scopus 로고
    • Familial agenesis of the cerebellar vermis: A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation
    • Joubert M, Eisenring JJ, Robb JP, Andermann F (1969) Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 19:813-825
    • (1969) Neurology , vol.19 , pp. 813-825
    • Joubert, M.1    Eisenring, J.J.2    Robb, J.P.3    Andermann, F.4
  • 3
    • 27744518340 scopus 로고    scopus 로고
    • Genetic basis of Joubert syndrome and related disorders of cerebellar development
    • Louie CM, Gleeson JG (2005) Genetic basis of Joubert syndrome and related disorders of cerebellar development. Hum Mol Genet 14:R235-R242
    • (2005) Hum Mol Genet , vol.14
    • Louie, C.M.1    Gleeson, J.G.2
  • 5
    • 33645380163 scopus 로고    scopus 로고
    • The contribution of associated congenital anomalies in understanding Hirschprung's disease
    • Moore SW (2006) The contribution of associated congenital anomalies in understanding Hirschprung's disease. Pediatr Surg Int 22:305-315
    • (2006) Pediatr Surg Int , vol.22 , pp. 305-315
    • Moore, S.W.1
  • 8
    • 0037699808 scopus 로고    scopus 로고
    • Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease
    • Shahar E, Shinawi M (2003) Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease. Pediatr Neurol 28:385-391
    • (2003) Pediatr Neurol , vol.28 , pp. 385-391
    • Shahar, E.1    Shinawi, M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.