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Volumn 68, Issue 4, 1997, Pages 386-390

Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): New X-linked syndrome?

Author keywords

Alopecia; Clefting; Eye hypoplasia; Hirschsprung; Renal dysplasia

Indexed keywords

ALOPECIA; ARTICLE; BRAIN MALFORMATION; CASE REPORT; CLEFT PALATE; CRYPTORCHISM; EAR MALFORMATION; ECTODERMAL DYSPLASIA; GROWTH RETARDATION; HEARING IMPAIRMENT; HIRSCHSPRUNG DISEASE; HUMAN; HYPERKERATOSIS; KIDNEY DYSPLASIA; KIDNEY HYPOPLASIA; MALE; MENTAL DEFICIENCY; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; SCOLIOSIS; SKELETON MALFORMATION; X CHROMOSOME LINKED DISORDER;

EID: 0031036378     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (36)

References (7)
  • 1
    • 0038638417 scopus 로고
    • Hirschsprung megacolon, cleft lip and palate, mental retardation and minor congenital malformations
    • Brunoni D, Joffe R, Farah LMS, Cunha AJB (1983): Hirschsprung megacolon, cleft lip and palate, mental retardation and minor congenital malformations. J Clin Dysmorphol 1:20-22.
    • (1983) J Clin Dysmorphol , vol.1 , pp. 20-22
    • Brunoni, D.1    Joffe, R.2    Farah, L.M.S.3    Cunha, A.J.B.4
  • 3
    • 0023751644 scopus 로고
    • Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration
    • Hurst JA, Markiewicz M, Kumar D, Brett EM (1988): Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: A new syndrome of defective neuronal migration. J Med Genet 25: 494-497.
    • (1988) J Med Genet , vol.25 , pp. 494-497
    • Hurst, J.A.1    Markiewicz, M.2    Kumar, D.3    Brett, E.M.4
  • 5
    • 0026635593 scopus 로고
    • Biology of disease. Homeobox genes and congenital malformations
    • Redline RW, Neish A, Holmes LB, Collins T (1992): Biology of disease. Homeobox genes and congenital malformations. Lab Invest 66: 659-670.
    • (1992) Lab Invest , vol.66 , pp. 659-670
    • Redline, R.W.1    Neish, A.2    Holmes, L.B.3    Collins, T.4
  • 6
    • 0023834887 scopus 로고
    • Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: A new autosomal recessive syndrome
    • Santos H, Mateus J, Leal MJ (1988): Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: A new autosomal recessive syndrome. J Med Genet 25:204-205.
    • (1988) J Med Genet , vol.25 , pp. 204-205
    • Santos, H.1    Mateus, J.2    Leal, M.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.