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References

These sources were used to develop the Genetics Home Reference gene summary on the PORCN gene.

Clements SE, Mellerio JE, Holden ST, McCauley J, McGrath JA. PORCN gene mutations and the protean nature of focal dermal hypoplasia. Br J Dermatol. 2009 May;160(5):1103-9. doi: 10.1111/j.1365-2133.2009.09048.x. Epub 2009 Mar 9. PubMed citation
Clements SE, Wessagowit V, Lai-Cheong JE, Arita K, McGrath JA. Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene. J Dermatol Sci. 2008 Jan;49(1):39-42. Epub 2007 Oct 24. PubMed citation
Entrez Gene
Gene Review: Focal Dermal Hypoplasia
Grzeschik KH, Bornholdt D, Oeffner F, König A, del Carmen Boente M, Enders H, Fritz B, Hertl M, Grasshoff U, Höfling K, Oji V, Paradisi M, Schuchardt C, Szalai Z, Tadini G, Traupe H, Happle R. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat Genet. 2007 Jul;39(7):833-5. Epub 2007 Jun 3. PubMed citation
Leoyklang P, Suphapeetiporn K, Wananukul S, Shotelersuk V. Three novel mutations in the PORCN gene underlying focal dermal hypoplasia. Clin Genet. 2008 Apr;73(4):373-9. doi: 10.1111/j.1399-0004.2008.00975.x. Epub 2008 Mar 3. PubMed citation
OMIM: PORCUPINE, DROSOPHILA, HOMOLOG OF
Paller AS. Wnt signaling in focal dermal hypoplasia. Nat Genet. 2007 Jul;39(7):820-1. PubMed citation
Tanaka K, Okabayashi K, Asashima M, Perrimon N, Kadowaki T. The evolutionarily conserved porcupine gene family is involved in the processing of the Wnt family. Eur J Biochem. 2000 Jul;267(13):4300-11. PubMed citation
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. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet. 2007 Jul;39(7):836-8. Epub 2007 Jun 3. PubMed citation


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