메뉴 건너뛰기




Volumn 144, Issue 2, 2004, Pages 274-277

IMAGe syndrome: A complex disorder affecting growth, adrenal and gonadal function, and skeletal development

Author keywords

ACTH; Adrenal hypoplasia congenita; Adrenocorticotrophic hormone; AHC; DAX 1; Dosage sensitive sex reversal, adrenal hypoplasia congenita on the X chromosome, gene 1; GH; Growth hormone; hCG; Human chorionic gonadotrophin; IMAGe

Indexed keywords

CORTICOSTEROID; GLUCOCORTICOID; GROWTH HORMONE; MINERALOCORTICOID; TESTOSTERONE PROPIONATE;

EID: 1542347707     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2003.09.052     Document Type: Article
Times cited : (34)

References (14)
  • 1
    • 0003436550 scopus 로고
    • Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive and x-linked phenotypes
    • Baltimore and London: The Johns Hopkins University Press
    • McKusick V.A. Mendelian inheritance in man: catalogs of autosomal dominant, autosomal recessive and x-linked phenotypes. 10th ed :1992;The Johns Hopkins University Press, Baltimore and London
    • (1992) 10th Ed
    • McKusick, V.A.1
  • 2
    • 0002011734 scopus 로고    scopus 로고
    • Adrenal hypoplasias and aplasias
    • C.R. Scriver, A.L. Beaudet, & W.S. et al. Sly. New York: McGraw-Hill
    • McCabe E.R.B. Adrenal hypoplasias and aplasias. Scriver C.R., Beaudet A.L., Sly W.S., et al. The metabolic and molecular bases of inherited diseases. 8th ed :2001;4263-4274 McGraw-Hill, New York
    • (2001) The Metabolic and Molecular Bases of Inherited Diseases 8th Ed , pp. 4263-4274
    • McCabe, E.R.B.1
  • 5
    • 0017646937 scopus 로고
    • Gonadotropin deficiency and adrenocortical insufficiency in children: A new syndrome
    • Kelly W.F., Joplin G.F., Pearson G.W. Gonadotropin deficiency and adrenocortical insufficiency in children: a new syndrome. BMJ. 9:1977;98
    • (1977) BMJ , vol.9 , pp. 98
    • Kelly, W.F.1    Joplin, G.F.2    Pearson, G.W.3
  • 6
    • 0018827719 scopus 로고
    • Glycerol kinase deficiency with neuromuscular skeletal, and adrenal abnormalities
    • Guggenheim M.A., McCabe E.R.B., Roig M., et al. Glycerol kinase deficiency with neuromuscular skeletal, and adrenal abnormalities. Ann Neurol. 17:1980;441-449
    • (1980) Ann Neurol , vol.17 , pp. 441-449
    • Guggenheim, M.A.1    McCabe, E.R.B.2    Roig, M.3
  • 7
    • 0014751454 scopus 로고
    • Congenital adrenal hypoplasia-an X-linked disease
    • Weiss L., Mellinger R.C. Congenital adrenal hypoplasia-an X-linked disease. J Med Genet. 7:1970;27-32
    • (1970) J Med Genet , vol.7 , pp. 27-32
    • Weiss, L.1    Mellinger, R.C.2
  • 8
    • 0033304828 scopus 로고    scopus 로고
    • IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenital, and genital anomalies
    • Vilain E., Le Merrer M., Lecointre C., et al. IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenital, and genital anomalies. J Clin Endocrinol Metab. 84:1999;4335-4340
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 4335-4340
    • Vilain, E.1    Le Merrer, M.2    Lecointre, C.3
  • 9
    • 0036049405 scopus 로고    scopus 로고
    • IMAGe association: Additional clinical features and evidence for recessive autosomal inheritance
    • Lienhardt A., Mas J.C., Kalifa G., Chaussain J.L., Tauber M. IMAGe association: additional clinical features and evidence for recessive autosomal inheritance. Horm Res. 57:(suppl 2):2002;71-78
    • (2002) Horm Res , vol.57 , Issue.SUPPL. 2 , pp. 71-78
    • Lienhardt, A.1    Mas, J.C.2    Kalifa, G.3    Chaussain, J.L.4    Tauber, M.5
  • 10
    • 0000756320 scopus 로고
    • Normal growth and variation in the male genitalia from birth to maturity
    • Schonfeld W.A., Beebe G.W. Normal growth and variation in the male genitalia from birth to maturity. J Urol. 48:1942;759-777
    • (1942) J Urol , vol.48 , pp. 759-777
    • Schonfeld, W.A.1    Beebe, G.W.2
  • 12
    • 0024996081 scopus 로고
    • Congenital adrenal hypoplasia in association with growth hormone deficiency, developmental delay, partial androgen resistance, unusual facies, and skeletal abnormalities
    • Blethen S., Wenick G.B., Hawkins L. Congenital adrenal hypoplasia in association with growth hormone deficiency, developmental delay, partial androgen resistance, unusual facies, and skeletal abnormalities. Dysmorphol Clin Genet. 4:1990;110-116
    • (1990) Dysmorphol Clin Genet , vol.4 , pp. 110-116
    • Blethen, S.1    Wenick, G.B.2    Hawkins, L.3
  • 13
    • 3042796124 scopus 로고
    • Adrenal hypoplasia associated with severe growth deficiency, specific pattern of malformation and psychomotor retardation
    • [abstract]
    • Hall B.D., Stelling M.W. Adrenal hypoplasia associated with severe growth deficiency, specific pattern of malformation and psychomotor retardation. [abstract] Proc West Soc Pediatr Res. 39:1991;63
    • (1991) Proc West Soc Pediatr Res , vol.39 , pp. 63
    • Hall, B.D.1    Stelling, M.W.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.