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Volumn 6, Issue 2, 1997, Pages 133-138

Absent nails, kinesogenic choreoathetosis, epilepsy and developmental delay - A new autosomal dominant disorder?

Author keywords

absent nails; developmental delay; epilepsy; kinesogenic choreoathetosis

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHILD; CHOREOATHETOSIS; EPILEPSY; FEMALE; HUMAN; MALE; MENTAL DEFICIENCY; NAIL APLASIA; PRIORITY JOURNAL; SYNDROME DELINEATION;

EID: 0030932060     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-199704000-00005     Document Type: Article
Times cited : (8)

References (9)
  • 1
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    • Heredofamilial syndrome of spastic paraplegia dysarthria and cutaneous lesions in five siblings
    • Bahemuka M, Brown JD (1982): Heredofamilial syndrome of spastic paraplegia dysarthria and cutaneous lesions in five siblings. Dev Med Child Neurol.
    • (1982) Dev Med Child Neurol
    • Bahemuka, M.1    Brown, J.D.2
  • 2
    • 0021970380 scopus 로고
    • A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges
    • Cooks RG, Hertz M, Katnelson 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    Katnelson, M.B.M.3    Goodman, R.M.4
  • 4
    • 0027064914 scopus 로고
    • Autosomal recessive neurodegenerative disorder with trichorrhexis invaginata and ectodermal dysplasia
    • Gyure KA, Kurczynski TW, Gunning W, French BN (1992): Autosomal recessive neurodegenerative disorder with trichorrhexis invaginata and ectodermal dysplasia. Pediatr Neurol 8: 469-472.
    • (1992) Pediatr Neurol , vol.8 , pp. 469-472
    • Gyure, K.A.1    Kurczynski, T.W.2    Gunning, W.3    French, B.N.4
  • 5
    • 0000547204 scopus 로고
    • Hereditary gingival fibromatosis: Report of an affected family with associated splenomegaly and skeletal and soft-tissue abnormalities
    • Laband PF (1964): Hereditary gingival fibromatosis: Report of an affected family with associated splenomegaly and skeletal and soft-tissue abnormalities. Oral Surg 17: 339-351.
    • (1964) Oral Surg , vol.17 , pp. 339-351
    • Laband, P.F.1
  • 6
    • 0017616188 scopus 로고
    • Familial Paroxysmal Dystonic choreoathetosis and its differentiation from related syndromes
    • Lance JW (1977): Familial Paroxysmal Dystonic choreoathetosis and its differentiation from related syndromes. Ann Neurol 2: 285-293.
    • (1977) Ann Neurol , vol.2 , pp. 285-293
    • Lance, J.W.1
  • 8
    • 0026007132 scopus 로고
    • Severe mental retardation and absent nails of hallux and pollex
    • Temple IK, Baraitser M (1991): Severe mental retardation and absent nails of hallux and pollex. Am J Med Genet 41: 173-175.
    • (1991) Am J Med Genet , vol.41 , pp. 173-175
    • Temple, I.K.1    Baraitser, M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.