메뉴 건너뛰기




Volumn 82, Issue 5, 1999, Pages 404-408

Congenital stapes ankylosis, broad thumbs, and hyperopia: Report of a family and refinement of a syndrome

Author keywords

Autosomal dominant; Broad thumbs; Conductive hearing loss; Hyperopia; Stapes ankylosis

Indexed keywords

ANKYLOSIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; CONDUCTION DEAFNESS; DIAGNOSTIC VALUE; DISEASE PREDISPOSITION; FACIO AUDIO SYMPHALANGISM SYNDROME; FEMALE; HEARING LOSS; HUMAN; HYPERMETROPIA; PRIORITY JOURNAL; STAPES; TEUNISSEN CREMERS SYNDROME; THUMB MALFORMATION;

EID: 0033582552     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990219)82:5<404::AID-AJMG9>3.0.CO;2-I     Document Type: Article
Times cited : (17)

References (13)
  • 1
    • 0026584439 scopus 로고
    • An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
    • Baldwin C, Hoth C, Amos J, da Silva E, Milunsky A. 1992. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 355:637-638.
    • (1992) Nature , vol.355 , pp. 637-638
    • Baldwin, C.1    Hoth, C.2    Amos, J.3    Da Silva, E.4    Milunsky, A.5
  • 2
    • 0001374419 scopus 로고
    • Anomalies of the ossicles without malformations of the external ear
    • Funasaka S, Abe H, Tozuka K. 1971. Anomalies of the ossicles without malformations of the external ear. Otologia Fukuoka 17:250-257.
    • (1971) Otologia Fukuoka , vol.17 , pp. 250-257
    • Funasaka, S.1    Abe, H.2    Tozuka, K.3
  • 3
    • 0030789047 scopus 로고    scopus 로고
    • The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia
    • Hilhorst-Hofstee Y, Watkin PM, Hall CM, Baraitser M. 1997. The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia. Clin Dysmorphol 6:195-203.
    • (1997) Clin Dysmorphol , vol.6 , pp. 195-203
    • Hilhorst-Hofstee, Y.1    Watkin, P.M.2    Hall, C.M.3    Baraitser, M.4
  • 6
    • 0032011145 scopus 로고    scopus 로고
    • A mutation in the PDS gene responsible for Pendred syndrome, also causes non-syndromic recessive deafness
    • Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER. 1998. A mutation in the PDS gene responsible for Pendred syndrome, also causes non-syndromic recessive deafness. Nat Genet 18:215-217.
    • (1998) Nat Genet , vol.18 , pp. 215-217
    • Li, X.C.1    Everett, L.A.2    Lalwani, A.K.3    Desmukh, D.4    Friedman, T.B.5    Green, E.D.6    Wilcox, E.R.7
  • 8
    • 0026410464 scopus 로고
    • Genetic epidemiology of hearing impairment
    • Ruben RJ, Van De Water TR, Steel KP, editors. New York: New York Academy of Sciences
    • Morton NE. 1991. Genetic epidemiology of hearing impairment. In: Ruben RJ, Van De Water TR, Steel KP, editors. Genetics of hearing impairment. Annals of the New York Academy of Sciences, Vol. 630. New York: New York Academy of Sciences. p 16-31.
    • (1991) Genetics of Hearing Impairment. Annals of the New York Academy of Sciences , vol.630 , pp. 6-31
    • Morton, N.E.1
  • 9
    • 0029807805 scopus 로고    scopus 로고
    • Genes responsible for human hereditary deafness: Symphony of a thousand
    • Petit C. 1996. Genes responsible for human hereditary deafness: Symphony of a thousand. Nat Genet 14:385-391.
    • (1996) Nat Genet , vol.14 , pp. 385-391
    • Petit, C.1
  • 10
    • 0028998774 scopus 로고
    • Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22
    • Polymeropoulos MH, Poush J, Rubenstein JR, Francomano CA. 1995. Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22. Genomics 27:225-229.
    • (1995) Genomics , vol.27 , pp. 225-229
    • Polymeropoulos, M.H.1    Poush, J.2    Rubenstein, J.R.3    Francomano, C.A.4
  • 11
    • 0025308129 scopus 로고
    • An autosomal dominant inherited syndrome with congenital stapes ankylosis
    • Teunissen B, Cremers CWRJ. 1990. An autosomal dominant inherited syndrome with congenital stapes ankylosis. Laryngoscope 100:380-384.
    • (1990) Laryngoscope , vol.100 , pp. 380-384
    • Teunissen, B.1    Cremers, C.W.R.J.2
  • 12
    • 0030946546 scopus 로고    scopus 로고
    • Nonsyndromic hearing impairment: Unparalleled heterogeneity
    • Van Camp G, Willems PJ, Smith RJH. 1997. Nonsyndromic hearing impairment: Unparalleled heterogeneity. Am J Hum Genet 60:758-764.
    • (1997) Am J Hum Genet , vol.60 , pp. 758-764
    • Van Camp, G.1    Willems, P.J.2    Smith, R.J.H.3
  • 13
    • 0030951102 scopus 로고    scopus 로고
    • The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VII gene
    • Weil D, Kussel P, Blanchard S, Levy G, Drira M, Ayadi H, Petit C. 1997. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VII gene. Nat Genet 16:191-193.
    • (1997) Nat Genet , vol.16 , pp. 191-193
    • Weil, D.1    Kussel, P.2    Blanchard, S.3    Levy, G.4    Drira, M.5    Ayadi, H.6    Petit, C.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.