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Volumn 5, Issue 4, 2010, Pages 180-182

Johanson-Blizzard syndrome - A case study of oral and systemic manifestations

Author keywords

Abnormalities; Johanson Blizzard syndrome; Oral manifestations

Indexed keywords

ADULT; ANUS ATRESIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CASE STUDY; CLINICAL FEATURE; CONVERGENT STRABISMUS; FACE ASYMMETRY; FEMALE; GENE MUTATION; HUMAN; HYPODONTIA; JOHANSON BLIZZARD SYNDROME; KARYOTYPING; MALFORMATION SYNDROME; MAXILLA HYPOPLASIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PALATE MALFORMATION; RARE DISEASE;

EID: 77956267369     PISSN: 18714048     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pedex.2009.10.002     Document Type: Article
Times cited : (3)

References (9)
  • 2
    • 0015183336 scopus 로고
    • A syndrome of congenital aplasia of the alae nasi, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption
    • A. Johanson, and R. Blizzard A syndrome of congenital aplasia of the alae nasi, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption J. Pediatr. 79 6 1971 982 987
    • (1971) J. Pediatr. , vol.79 , Issue.6 , pp. 982-987
    • Johanson, A.1    Blizzard, R.2
  • 3
    • 28444458475 scopus 로고    scopus 로고
    • Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)
    • M. Zenker Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome) Nat. Genet. 37 12 2005 1345 1350
    • (2005) Nat. Genet. , vol.37 , Issue.12 , pp. 1345-1350
    • Zenker, M.1
  • 5
    • 0037087487 scopus 로고    scopus 로고
    • Johanson-Blizzard syndrome - A case study, behavioral manifestations, and successful treatment strategies
    • J.F. Prater, and K. D'Addio Johanson-Blizzard syndrome - a case study, behavioral manifestations, and successful treatment strategies Biol. Psychiatry 51 6 2002 515 517
    • (2002) Biol. Psychiatry , vol.51 , Issue.6 , pp. 515-517
    • Prater, J.F.1    D'Addio, K.2
  • 8
    • 12244250736 scopus 로고    scopus 로고
    • Perioperative care of the child with the Johanson-Blizzard syndrome
    • C.R. Fichter, G.A. Johnson, S.R. Braddock, and J.D. Tobias Perioperative care of the child with the Johanson-Blizzard syndrome Paediatr. Anaesth. 13 1 2003 72 75
    • (2003) Paediatr. Anaesth. , vol.13 , Issue.1 , pp. 72-75
    • Fichter, C.R.1    Johnson, G.A.2    Braddock, S.R.3    Tobias, J.D.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.