메뉴 건너뛰기




Volumn 193, Issue 4, 1996, Pages 349-352

Trichorhinophalangeal syndrome type III

Author keywords

Recombinant human; Scanning electron microscopy of hair; Trichorhinophalangeal syndrome type III

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRACHYDACTYLY; CASE REPORT; CRANIOFACIAL MALFORMATION; EPIPHYSIS; EXOSTOSIS; FAMILY; FEMALE; FINGER; GROWTH RETARDATION; HUMAN; HUMAN CELL; LOWER LIP; MENTAL DEFICIENCY; NOSE; PRIORITY JOURNAL; SCALP HAIR; SCANNING ELECTRON MICROSCOPY; SCANTY HAIR; SHORT STATURE; SYMPTOM; TOE; TRICHORHINOPHALANGEAL SYNDROME; TRICHORHINOPHALANGEAL SYNDROME TYPE III; TURKEY (REPUBLIC); UPPER LIP; X RAY ANALYSIS;

EID: 0030462040     PISSN: 10188665     EISSN: 14219832     Source Type: Journal    
DOI: 10.1159/000246290     Document Type: Article
Times cited : (23)

References (13)
  • 2
    • 78651031049 scopus 로고
    • Über eigentümliche Konstitutionsanomalien bei zwei Schwestern und ihre Beziehung zu neueren entwicklungspatholo-gischcn Befunden
    • Klingmüller G: Über eigentümliche Konstitutionsanomalien bei zwei Schwestern und ihre Beziehung zu neueren entwicklungspatholo-gischcn Befunden. Hautarzt 1956;7:105-113.
    • (1956) Hautarzt , vol.7 , pp. 105-113
    • Klingmüller, G.1
  • 3
    • 0015796577 scopus 로고
    • Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome: Report of 4 unrelated families, review of 60 cases
    • Giedion A. ßurdea M. Fruchter Z, Meloni T. Trosc V: Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome: Report of 4 unrelated families, review of 60 cases. Helv Paediatr Acta 1973:28:249-259.
    • (1973) Helv Paediatr Acta , vol.28 , pp. 249-259
    • Giedion, A.1    ßurdea, M.2    Fruchter, Z.3    Meloni, T.4    Trosc, V.5
  • 4
    • 0024581452 scopus 로고
    • Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13
    • Yamamoto Y, Oguro N. Miyao M, Yanagisawa M: Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13. Am J Med Genet 1989:32:133-135.
    • (1989) Am J Med Genet , vol.32 , pp. 133-135
    • Yamamoto, Y.1    Oguro, N.2    Miyao, M.3    Yanagisawa, M.4
  • 5
    • 0021185576 scopus 로고
    • The tricho-rhino-phalangeal syndromc(S). Chromosome 8 long arm deletion: Is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: Are they separate entities?
    • Bidder EM. Malik NJ: The tricho-rhino-phalangeal syndromc(s). Chromosome 8 long arm deletion: Is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: Are they separate entities? Am J Med Genet 1984:19:113-119.
    • (1984) Am J Med Genet , vol.19 , pp. 113-119
    • Bidder, E.M.1    Malik, N.J.2
  • 7
    • 0020557379 scopus 로고
    • Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)?
    • Bidder EM. Bidder UK. Christen R: Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)? Hum Genet 1983;64:163-166.
    • (1983) Hum Genet , vol.64 , pp. 163-166
    • Bidder, E.M.1    Bidder, U.K.2    Christen, R.3
  • 8
    • 0021719635 scopus 로고
    • Ruvalcaba syndrome: Autosomal dominant inheritance
    • Sugio Y. Kajii T: Ruvalcaba syndrome: Autosomal dominant inheritance. Am J Med Genet 1984:19:741-753.
    • (1984) Am J Med Genet , vol.19 , pp. 741-753
    • Sugio, Y.1    Kajii, T.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.