메뉴 건너뛰기




Volumn 11, Issue 1, 2002, Pages 29-32

An infant case of Pallister-Hall syndrome treated with hormone replacement

Author keywords

Dysplastic metacarpals; Hypopituitarism; Hypothalamic hamartoblastoma; Micropenis; Pallister Hall syndrome

Indexed keywords

FLUDROCORTISONE ACETATE; GROWTH HORMONE; HYDROCORTISONE; SODIUM CHLORIDE; THYROID HORMONE;

EID: 22744439420     PISSN: 09185739     EISSN: None     Source Type: Journal    
DOI: 10.1297/cpe.11.29     Document Type: Article
Times cited : (2)

References (6)
  • 1
    • 0024363718 scopus 로고
    • Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome)
    • Iafolla K, Fratkin JD, Spiegel PK, et al. Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome). Am J Med Genet 1989; 33: 489-99.
    • (1989) Am J Med Genet , vol.33 , pp. 489-499
    • Iafolla, K.1    Fratkin, J.D.2    Spiegel, P.K.3
  • 2
    • 0019210894 scopus 로고
    • Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly - A new syndrome? Part I. Clinical, causal, and pathogenic considerations
    • Hall JG, Pallister SK, Clarren SK, et al. Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly-a new syndrome? Part I. Clinical, causal, and pathogenic considerations. Am J Med Genet 1980; 7: 47-74.
    • (1980) Am J Med Genet , vol.7 , pp. 47-74
    • Hall, J.G.1    Pallister, S.K.2    Clarren, S.K.3
  • 3
    • 0019169705 scopus 로고
    • Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly - A new syndrome? Part II. Neuropathological considerations
    • Clarren SK, Alvord EC, Hall JG. Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly-a new syndrome? Part II. Neuropathological considerations. Am J Med Genet 1980; 7: 75-83.
    • (1980) Am J Med Genet , vol.7 , pp. 75-83
    • Clarren, S.K.1    Alvord, E.C.2    Hall, J.G.3
  • 4
    • 0026638262 scopus 로고
    • Pallister-Hall syndrome associated with an unbalanced chromosome translocation
    • Kuller JA, Cox VA, Schonberg SA, et al. Pallister-Hall syndrome associated with an unbalanced chromosome translocation. AM J Med Genet 1992; 43: 647-50.
    • (1992) AM J Med Genet , vol.43 , pp. 647-650
    • Kuller, J.A.1    Cox, V.A.2    Schonberg, S.A.3
  • 5
    • 0027194262 scopus 로고
    • Familial Pallister-Hall Syndrome: Case report and hormonal evaluation
    • Sills IN, Rapaport R, Robinson LP, et al. Familial Pallister-Hall Syndrome: case report and hormonal evaluation. Am J Med Genet 1993; 47: 321-25.
    • (1993) Am J Med Genet , vol.47 , pp. 321-325
    • Sills, I.N.1    Rapaport, R.2    Robinson, L.P.3
  • 6
    • 0031019090 scopus 로고    scopus 로고
    • GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome
    • Kang S, Graham JM Jr, Olney AH, et al. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet 1997; 15: 266-8.
    • (1997) Nat Genet , vol.15 , pp. 266-268
    • Kang, S.1    Graham Jr., J.M.2    Olney, A.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.