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  • Bornholdt D, Oeffner F, Konig A, Happle R, Alanay Y, Ascherman J, Benke PJ, Del Carmen Boente M, van der Burgt I, Chassaing N, Ellis I, Francisco CR, Giovanna PD, Hamel B, Has C, Heinelt K, Janecke A, Kastrup W, Loeys B, Lohrisch I, Marcelis C, Mehraein Y, Nicolas ME, Pagliarini D, Paradisi M, Patrizi A, Piccione M, Piza-Katzer H, Prager B, Prescott K, Strien J, Utine GE, Zeller MS, Grzeschik KH. 2009. PORCN mutations in focal dermal hypoplasia: Coping with lethality. Hum Mutat 30: E618E628.
  • Clements SE, Wessagowit V, Lai-Cheong JE, Arita K, McGrath JA. 2008. Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene. J Dermatol Sci 49: 3942.
  • Clements SE, Mellerio JE, Holden ST, McCauley J, McGrath JA. 2009. PORCN gene mutations and the protean nature of focal dermal hypoplasia. Br J Dermatol 160: 11031109.
  • Goltz RW, Peterson WC, Gorlin RJ, Ravits HG. 1962. Focal dermal hypoplasia. Arch Dermatol 86: 708717.
  • Grzeschik KH, Bornholdt D, Oeffner F, Konig A, del Carmen Boente M, Enders H, Fritz B, Hertl M, Grasshoff U, Hofling K, Oji V, Paradisi M, Schuchardt C, Szalai Z, Tadini G, Traupe H, Happle R. 2007. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat Genet 39: 833835.
  • Harmsen MB, Azzarello-Burri S, Garcia Gonzalez MM, Gillessen-Kaesbach G, Meinecke P, Muller D, Rauch A, Rossier E, Seemanova E, Spaich C, Steiner B, Wieczorek D, Zenker M, Kutsche K. 2009. Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: No evidence of genetic overlap. Eur J Hum Genet (in press).
  • Leoyklang P, Suphapeetiporn K, Wananukul S, Shotelersuk V. 2008. Three novel mutations in the PORCN gene underlying focal dermal hypoplasia. Clin Genet 73: 373379.
  • Schaffer JV, Cantatore-Francis JL, Shin HT, Rosenman KS. 2009. Syringocystadenoma papilliferum in a patient with focal dermal hypoplasia due to a novel PORCN mutation. Arch Dermatol 145: 218219.
  • Wang X, Reid Sutton V, Omar Peraza-Llanes J, Yu Z, Rosetta R, Kou YC, Eble TN, Patel A, Thaller C, Fang P, Van den Veyver IB. 2007. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet 39: 836838.