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Volumn 8, Issue 2, 1999, Pages 87-92

Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: Confirmation of an autosomal recessive syndrome

Author keywords

Anterior segment anomalies of the eye; Arthrogryposis multiplex; Autosomal recessive; Skeletal anomalies

Indexed keywords

ANTERIOR EYE SEGMENT; ARTHROGRYPOSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONSANGUINEOUS MARRIAGE; EYE MALFORMATION; FEMALE; HUMAN; JOINT CONTRACTURE; LETHALITY; MALE; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PRIORITY JOURNAL; SIBLING; SKELETON MALFORMATION;

EID: 0032958899     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (9)

References (7)
  • 2
    • 0013517483 scopus 로고
    • A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis
    • Aicardi J, Goutières F (1984). A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neural 30: 112-116.
    • (1984) Ann Neural , vol.30 , pp. 112-116
    • Aicardi, J.1    Goutières, F.2
  • 3
    • 0028050455 scopus 로고
    • Anterior segment anomalies of the eye, clefting and skeletal abnormalities in two sibs of consanguineous parents: Michels syndrome or new syndrome?
    • Al-Gazali LI, Al Talabani J, Mosawi A, Lytle W (1994). Anterior segment anomalies of the eye, clefting and skeletal abnormalities in two sibs of consanguineous parents: Michels syndrome or new syndrome? Clin Dysmorphol 3:238-244.
    • (1994) Clin Dysmorphol , vol.3 , pp. 238-244
    • Al-Gazali, L.I.1    Al Talabani, J.2    Mosawi, A.3    Lytle, W.4
  • 5
    • 0023804119 scopus 로고
    • Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the central nervous system
    • Illum N, Reske-Nielsen E, Skovby F, Askjaer SA, Bernsen A (1988). Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the central nervous system. Neuropediatrics 19: 186-192.
    • (1988) Neuropediatrics , vol.19 , pp. 186-192
    • Illum, N.1    Reske-Nielsen, E.2    Skovby, F.3    Askjaer, S.A.4    Bernsen, A.5
  • 6
    • 0025980611 scopus 로고
    • Association of distal arthrogryposis, mental retardation, whistling face and Pierre Robin Sequence: Evidence for nosologic heterogeneity
    • Schrander-Stumpel C, Fryns JP, Beemer FA, Rive FA (1991). Association of distal arthrogryposis, mental retardation, whistling face and Pierre Robin Sequence: Evidence for nosologic heterogeneity. Am J Med Genet 38: 557-561.
    • (1991) Am J Med Genet , vol.38 , pp. 557-561
    • Schrander-Stumpel, C.1    Fryns, J.P.2    Beemer, F.A.3    Rive, F.A.4
  • 7
    • 0004263777 scopus 로고
    • Philadelphia, London, Toronto, Montreal, Sydney, Tokyo, WB Saunders Co
    • Volpe JJ (1995). Neurology of the Newborn. 3rd ed. Philadelphia, London, Toronto, Montreal, Sydney, Tokyo, WB Saunders Co: 389-391.
    • (1995) Neurology of the Newborn. 3rd Ed. , pp. 389-391
    • Volpe, J.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.