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ORIGINAL ARTICLES

Focal Dermal Hypoplasia Due to De Novo Mutation c.1061T>C(p.Leu354Pro) in the PORCN Gene: Importance of Early Diagnosis and Multidisciplinary Follow-Up

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Pages 375-382 | Received 17 Oct 2014, Accepted 10 Sep 2015, Published online: 16 Oct 2015

REFERENCES

  • Goltz RW. Focal dermal hypoplasia syndrome: an update. Arch Derm 1992;128:1108–1111.
  • Sutton VR, Van der Veyver IB. Focal dermal hypoplasia. In: GeneReviews. Pagon RA, Adam MP, Ardinger HH, et al., eds. Seattle, WA: University of Washington; 2008. http:www.ncbi.nlm.nih.gov /books/NBK1543/
  • Orpha.net [Internet]. Paris: Orphanet; 2000. http: //www.orpha.net/consor/cgi‐bin/index.php?lng = ES/
  • Jain A, Chander R, Garg T, et al. A rare multisystem disorder: Goltz syndrome –case report and brief overview. Dermatol Online J 2010;16(6):2.
  • Contreras-Capetillo SN, Lombardi MP, Pinto-Escalante D, Hennekam RC. Focal dermal hypoplasia without focal dermal hypoplasia. Am J Med Genet A 2014; 164(3):778–781.
  • Lombardi MP, Bulk S, Celli J, et al. Mutation update for the PORCN gene. Hum Mutat 2011;32:723–728.
  • Peters T, Perrier R, Haber RM. Focal dermal hypoplasia: report of a case with myelomeningocele, Arnold-Chiari malformation and hydrocephalus with a review of neurologic manifestations of Goltz syndrome. Pediatr Dermatol 2014;31(2):220–224.
  • Murakami C, de Oliveira Lira Ortega A, Guimaraes AS, et al. Focal dermal hypoplasia: a case report and literature review. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2011; 112(2):e11–e18.
  • Froyen G, Govaerts K, Van Esch H, et al. Novel PORCN mutations in focal dermal hypoplasia. Clin Genet 2009; 76(6):535–543.
  • Maas SM, Lombardi MP, van Essen AJ, et al. Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome. J Med Genet 2009;46:716–720.
  • Wang X, Reid-Sutton V, Omar-Peraza-Llanes J, et al. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet 2007;39:836–838.
  • 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;39(7):833–835.
  • Bornholdt D, Oeffner F, König A, et al. PORCN mutations in focal dermal hypoplasia: coping with lethality. Hum Mutat 2009;30(5):E618–628.

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