메뉴 건너뛰기




Volumn 100, Issue 9, 2001, Pages 635-638

Clinical characteristics of tricho-rhino-phalangeal syndrome type I in Taiwanese

Author keywords

Brachydactyly; Cone shaped epiphyses; Hypotrichosis; TRPS I

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BODY HEIGHT; BRACHYDACTYLY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EPIPHYSIS; EYEBROW; FEMALE; FOOT RADIOGRAPHY; GENETIC COUNSELING; HALLUX; HAND RADIOGRAPHY; HISTOPATHOLOGY; HUMAN; HYPOTRICHOSIS; INCIDENCE; INTELLIGENCE; LONG PHILTRUM; MALE; MALFORMATION SYNDROME; NOSE; PHALANX; PHYSICAL EXAMINATION; RETROSPECTIVE STUDY; SCALP HAIR; TAIWAN; THUMB MALFORMATION; TRICHORHINOPHALANGEAL SYNDROME TYPE 1;

EID: 0034749742     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (4)

References (20)
  • 1
    • 78651031049 scopus 로고
    • Über eigentümliche Konstitutionsanomalien bei zwei Schwestern und ihre Beziehung zu neuren Entwicklung pathologischen befunden
    • (1956) Hautarzt , vol.7 , pp. 105-113
    • Klingmüller, G.1
  • 7
    • 0019983671 scopus 로고
    • Tricho-rhino-phalangeal syndrome. Disturbed geometric relationships between hair matrix and dermal papilla in scalp hair bulbs
    • (1982) Dermatologica , vol.165 , pp. 16-23
    • Van Neste, D.1    Dumortier, M.2
  • 14
    • 0014983137 scopus 로고
    • Cone-shaped epiphyses (CSE) in siblings with hereditary renal disease and retinitis pigmentosa
    • (1971) Radiology , vol.98 , pp. 39-45
    • Saladino, R.1    Mainzer, F.2
  • 17
    • 0018875640 scopus 로고
    • Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8: 4,XY de 8 (q.13-22)
    • (1980) Clin Genet , vol.18 , pp. 142-146
    • Pfeiffer, R.A.1
  • 19
    • 0029128473 scopus 로고
    • A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: Use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1)
    • (1995) Genomics , vol.29 , pp. 87-97
    • Hou, J.1    Parrish, J.2    Ludecke, H.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.