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Volumn 9, Issue 1, 2000, Pages 15-19

New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome

Author keywords

Autosomal dominant; Brachymorphism Onychodysplasia Dysphalangism syndrome; Coffin Siris syndrome; DOOR syndrome

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRACHYDACTYLY; CASE REPORT; CLINODACTYLY; CRANIOFACIAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; FEMALE; FINGER MALFORMATION; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPERTELORISM; MALE; NAIL DYSTROPHY; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; STILLBIRTH;

EID: 0033965757     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200009010-00003     Document Type: Article
Times cited : (5)

References (9)
  • 1
    • 0028871480 scopus 로고
    • Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome
    • Bonioli E, Palmieri A, Bertola A, Bellini C (1995). Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome. Gen Couns 6:309-312.
    • (1995) Gen Couns , vol.6 , pp. 309-312
    • Bonioli, E.1    Palmieri, A.2    Bertola, A.3    Bellini, C.4
  • 2
    • 0028256075 scopus 로고
    • DOOR syndrome: Additional case and literature review
    • Bos CJM, Ippel PF, Beemer FA (1994). DOOR syndrome: additional case and literature review. Clin Dysmorphol 3:15-20.
    • (1994) Clin Dysmorphol , vol.3 , pp. 15-20
    • Bos, C.J.M.1    Ippel, P.F.2    Beemer, F.A.3
  • 3
    • 0021970380 scopus 로고
    • A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges
    • Cooks RG, Hertz M, Katznelson MBM, Goodman RM (1985). A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges. Clin Genet 27:85-91.
    • (1985) Clin Genet , vol.27 , pp. 85-91
    • Cooks, R.G.1    Hertz, M.2    Katznelson, M.B.M.3    Goodman, R.M.4
  • 5
    • 0025755713 scopus 로고
    • Coffin-Siris syndrome
    • Levy P, Baraitser M (1991). Coffin-Siris syndrome. J Med Genet 28:338-341.
    • (1991) J Med Genet , vol.28 , pp. 338-341
    • Levy, P.1    Baraitser, M.2
  • 6
    • 0027443757 scopus 로고
    • DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): A new patient and delineation of neurologic variability among recessive cases
    • Lin HJ, Kakkis ED, Eteson DJ, Lachman RS (1993). DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): a new patient and delineation of neurologic variability among recessive cases. Am J Med Genet 47:534-539
    • (1993) Am J Med Genet , vol.47 , pp. 534-539
    • Lin, H.J.1    Kakkis, E.D.2    Eteson, D.J.3    Lachman, R.S.4
  • 7
    • 0017850441 scopus 로고
    • Hereditary brachydactyly with nail dysplasia
    • Schott GD (1978). Hereditary brachydactyly with nail dysplasia. J Med Genet 15:199-122.
    • (1978) J Med Genet , vol.15 , pp. 199-1122
    • Schott, G.D.1
  • 8
    • 0015099178 scopus 로고
    • Impaired growth and onychodysplasia
    • Senior B (1971). Impaired growth and onychodysplasia. Am J Dis Child 122:7-9.
    • (1971) Am J Dis Child , vol.122 , pp. 7-9
    • Senior, B.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.