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Pediatric Cardiology
Volumn 21, Issue 4, 2000, Pages 389-390
Severe intrauterine growth retardation, aged facial appearance, and congenital heart disease in a newborn with Johanson-Blizzard syndrome
Author keywords

Aged facies; Congenital heart disease; Intrauterine growth retardation; Johanson Blizzard syndrome
Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGENITAL HYPOTHYROIDISM; DISEASE ASSOCIATION; FACIAL EXPRESSION; FEMALE; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRAUTERINE GROWTH RETARDATION; JOHANSON BLIZZARD SYNDROME; NEWBORN; SYNDROME DELINEATION;
EID: 0343628737     PISSN: 01720643     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002460010089     Document Type: Article
Times cited : (16)
References (12)
  • 1
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  • 3
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    • (1990) Am J Med Genet , vol.35 , pp. 546-551
    • Gershoni-Baruch, R.1    Lerner, A.2    Braun, J.3
  • 4
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    • A syndrome of congenital hypoplasia of alae nasi, situs inversus and severe hypoproteinemia in two siblings
    • Helin I, Jodal U (1981) A syndrome of congenital hypoplasia of alae nasi, situs inversus and severe hypoproteinemia in two siblings. J Pediatr 99:932-934
    • (1981) J Pediatr , vol.99 , pp. 932-934
    • Helin, I.1    Jodal, U.2
  • 5
    • 0024491972 scopus 로고
    • Johanson-Blizzard syndrome
    • Hurst JA, Baraitser M (1989) Johanson-Blizzard syndrome. J Med Genet 26:45-48
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    • Hurst, J.A.1    Baraitser, M.2
  • 6
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    • A syndrome of congenital aplasia of alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth and malabsorption
    • Johanson A, Blizzard R (1971) A syndrome of congenital aplasia of alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth and malabsorption. J Pediatr 79:982-987
    • (1971) J Pediatr , vol.79 , pp. 982-987
    • Johanson, A.1    Blizzard, R.2
  • 7
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    • Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: A disorder of acinar development
    • Jones NL, Hofley PM, Durie PR (1994) Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: a disorder of acinar development. J Pediatr 125:406-408
    • (1994) J Pediatr , vol.125 , pp. 406-408
    • Jones, N.L.1    Hofley, P.M.2    Durie, P.R.3
  • 9
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    • Trypsinogen deficiency disease
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    • Morris, M.D.1    Fisher, D.A.2
  • 10
    • 0027516269 scopus 로고
    • A case of Johanson-Blizzard syndrome complicated by diabetes mellitus
    • Nagashima K, Yagi H, Kuroume T (1993) A case of Johanson-Blizzard syndrome complicated by diabetes mellitus. Clin Genet 43:98-100
    • (1993) Clin Genet , vol.43 , pp. 98-100
    • Nagashima, K.1    Yagi, H.2    Kuroume, T.3
  • 11
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    • Pancreatic exocrine aplasia, clinical features of leprechaunism, and abnormal gonadotropin regulation
    • Sizilagyi PG, Corsetti J, Callahan CM, McCormick K, Metlay LA (1987) Pancreatic exocrine aplasia, clinical features of leprechaunism, and abnormal gonadotropin regulation. Pediatr Pathol 7:51-61
    • (1987) Pediatr Pathol , vol.7 , pp. 51-61
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  • 12
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    • The Johanson-Blizzard syndrome: Report of a new case with special reference to the dentition and review of the literature
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    • Zerres, K.1    Holtgrave, A.2

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.