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Volumn 126, Issue 4, 1999, Pages 317-319

Congenital generalized cutis laxa: 5 Cases;Cutis laxa generalisee congenitale: 5 Cas

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CELL ULTRASTRUCTURE; CERULOPLASMIN BLOOD LEVEL; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COPPER METABOLISM; CUTIS LAXA; DIGESTIVE SYSTEM FUNCTION DISORDER; DISEASE COURSE; FACE DYSMORPHIA; FAMILY HISTORY; GROWTH RETARDATION; HISTOLOGY; HUMAN; LUNG EMPHYSEMA; MORPHOMETRICS; PHENOTYPE; PROGNOSIS; PSYCHOMOTOR RETARDATION; SKIN BIOPSY; BIOPSY; CASE REPORT; FATALITY; GENETICS; INFANT; KARYOTYPING; MALE; METABOLISM; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PATHOLOGY; PEDIGREE; RETROSPECTIVE STUDY;

EID: 0033113681     PISSN: 01519638     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (11)

References (8)
  • 4
    • 0029836981 scopus 로고    scopus 로고
    • A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome
    • Levinson B, Conant R, Schnur R. A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome. Hum Mol Genet 1996;5:1737-42.
    • (1996) Hum Mol Genet , vol.5 , pp. 1737-1742
    • Levinson, B.1    Conant, R.2    Schnur, R.3
  • 6
    • 0025767060 scopus 로고
    • Recurrent ctb(7) (931.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype
    • Bonneau D, Huret JL, Godeau G, Couet D, Putterman M, Tanzer J, et al. Recurrent ctb(7) (931.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype. Hum Genet 1991;87:317-9.
    • (1991) Hum Genet , vol.87 , pp. 317-319
    • Bonneau, D.1    Huret, J.L.2    Godeau, G.3    Couet, D.4    Putterman, M.5    Tanzer, J.6
  • 7
    • 0015354918 scopus 로고
    • The dominant and recessive forms of cutis laxa
    • Breighton P. The dominant and recessive forms of cutis laxa. J Med Genet 1972;9:216-21.
    • (1972) J Med Genet , vol.9 , pp. 216-221
    • Breighton, P.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.