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Volumn 17, Issue 7, 2009, Pages 881-882

Angioma serpiginosum is not caused by PORCN mutations

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN PORCN; REGULATOR PROTEIN; UNCLASSIFIED DRUG;

EID: 67649214797     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.55     Document Type: Letter
Times cited : (12)

References (11)
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    • 34247577623 scopus 로고    scopus 로고
    • Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12
    • Blinkenberg EO, Brendehaug A, Sandvik AK, Vatne O, Hennekam RC, Houge G: Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12. Eur J Hum Genet 2007; 15: 543-547.
    • (2007) Eur J Hum Genet , vol.15 , pp. 543-547
    • Blinkenberg, E.O.1    Brendehaug, A.2    Sandvik, A.K.3    Vatne, O.4    Hennekam, R.C.5    Houge, G.6
  • 2
    • 50149112456 scopus 로고    scopus 로고
    • An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation
    • Houge G, Oeffner F, Grzeschik KH: An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation. Eur J Hum Genet 2008; 16: 1027-1028.
    • (2008) Eur J Hum Genet , vol.16 , pp. 1027-1028
    • Houge, G.1    Oeffner, F.2    Grzeschik, K.H.3
  • 5
    • 0027204565 scopus 로고
    • Focal dermal hypoplasia: Four cases with widely varying presentations
    • Kilmer SL, Grix Jr FW, Isseroff RR: Focal dermal hypoplasia: four cases with widely varying presentations. J Am Acad Dermatol 1993; 28 839-843.
    • (1993) J Am Acad Dermatol , vol.28 , pp. 839-843
    • Kilmer, S.L.1    Grix Jr, F.W.2    Isseroff, R.R.3
  • 6
    • 67649232201 scopus 로고
    • Congenital focal dermal hypoplasia
    • Martin-Scott I: Congenital focal dermal hypoplasia. Br J Dermatol 1965; 77: 60-62.
    • (1965) Br J Dermatol , vol.77 , pp. 60-62
    • Martin-Scott, I.1
  • 7
    • 33750018036 scopus 로고    scopus 로고
    • Angioma serpiginosum arranged in a systematized segmental pattern suggesting mosaicism
    • Chen W, Liu TJ, Yang YC, Happle R: Angioma serpiginosum arranged in a systematized segmental pattern suggesting mosaicism. Dermatology 2006; 213: 236-238.
    • (2006) Dermatology , vol.213 , pp. 236-238
    • Chen, W.1    Liu, T.J.2    Yang, Y.C.3    Happle, R.4
  • 8
    • 34347326153 scopus 로고    scopus 로고
    • Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia
    • Grzeschik KH, Bornholdt D, Oeffner F et al: Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat Genet 2007; 3: 833-835.
    • (2007) Nat Genet , vol.3 , pp. 833-835
    • Grzeschik, K.H.1    Bornholdt, D.2    Oeffner, F.3
  • 9
    • 0016697163 scopus 로고
    • Fokale dermale Hypoplasie mit Keratokonus, Ösophaguspapillomen und Hidrokystomen.
    • Zala L, Ettlin C, Krebs A: Fokale dermale Hypoplasie mit Keratokonus, Ösophaguspapillomen und Hidrokystomen. Dermatologica 1975; 150: 176-185.
    • (1975) Dermatologica , vol.150 , pp. 176-185
    • Zala, L.1    Ettlin, C.2    Krebs, A.3
  • 11
    • 0033452668 scopus 로고    scopus 로고
    • Focal dermal hypoplasia (Goltz-Gorlin syndrome) associated with obstructive papillomatosis of the larynx and hypopharynx
    • Gordjani N, Herdeg S, Ross UH, Grimme H, Kleinschmidt M, Brandis M: Focal dermal hypoplasia (Goltz-Gorlin syndrome) associated with obstructive papillomatosis of the larynx and hypopharynx. Eur J Dermatol 1999; 9: 618-620.
    • (1999) Eur J Dermatol , vol.9 , pp. 618-620
    • Gordjani, N.1    Herdeg, S.2    Ross, U.H.3    Grimme, H.4    Kleinschmidt, M.5    Brandis, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.