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Volumn 122 A, Issue 4, 2003, Pages 323-324

Proteus syndrome: Misdiagnosis with PTEN mutations

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

EID: 0141924714     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper
Times cited : (48)

References (14)
  • 5
    • 0027377929 scopus 로고
    • Proteus syndrome: Clinical evidence for somatic mosaicism and selective review
    • Cohen MM Jr. 1993. Proteus syndrome: Clinical evidence for somatic mosaicism and selective review. Am J Med Genet 47:645-652
    • (1993) Am J Med Genet , vol.47 , pp. 645-652
    • Cohen M.M., Jr.1
  • 9
    • 0023319298 scopus 로고
    • Lethal genes surviving by mosaiiism: A possible explanation for sporadic birth defects involving the skin
    • Happle R. 1987. Lethal genes surviving by mosaiiism: A possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 16:899-906.
    • (1987) J Am Acad Dermatol , vol.16 , pp. 899-906
    • Happle, R.1
  • 11
    • 33646221587 scopus 로고    scopus 로고
    • Proteus syndrome: Diagnosis, misdiagnosis, and misattribution of etiology
    • in press
    • Turner JT, Cohen MM Jr, Biesecker LG. 2003. Proteus syndrome: Diagnosis, misdiagnosis, and misattribution of etiology. Am J Med Genet (in press).
    • (2003) Am J Med Genet
    • Turner, J.T.1    Cohen M.M., Jr.2    Biesecker, L.G.3
  • 12
    • 0020534650 scopus 로고
    • The Proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly, or other skull anomalies and possible accelerated growth and visceral affections
    • Wiedemann HR, Burgio GR, Aldenhoff P, Kunze J, Kaufmann HJ, Schirg E. 1983. The Proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly, or other skull anomalies and possible accelerated growth and visceral affections. Eur J Pediatr 140:5 - 12.
    • (1983) Eur J Pediatr , vol.140 , pp. 5-12
    • Wiedemann, H.R.1    Burgio, G.R.2    Aldenhoff, P.3    Kunze, J.4    Kaufmann, H.J.5    Schirg, E.6
  • 13
    • 0035928416 scopus 로고    scopus 로고
    • Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes
    • Zhou X, Hampel H, Thiele H, Gorlin RJ, Hennekam RC, Parisi M, Winter RM, Eng C. 2001. Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. Lancet 358:210-211.
    • (2001) Lancet , vol.358 , pp. 210-211
    • Zhou, X.1    Hampel, H.2    Thiele, H.3    Gorlin, R.J.4    Hennekam, R.C.5    Parisi, M.6    Winter, R.M.7    Eng, C.8
  • 14
    • 0034701247 scopus 로고    scopus 로고
    • Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations, and lipomatosis
    • Zhou XP, Marsh DJ, Hampel H, Mulliken JB, Gimm O, Eng C. 2000. Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations, and lipomatosis. Hum Mol Genet 9:765-768.
    • (2000) Hum Mol Genet , vol.9 , pp. 765-768
    • Zhou, X.P.1    Marsh, D.J.2    Hampel, H.3    Mulliken, J.B.4    Gimm, O.5    Eng, C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.