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Items: 18

1.

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.

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.

Nat Genet. 2007 Jul;39(7):836-8. Epub 2007 Jun 3.

PMID:
17546030
2.

Mutation update for the PORCN gene.

Lombardi MP, Bulk S, Celli J, Lampe A, Gabbett MT, Ousager LB, van der Smagt JJ, Soller M, Stattin EL, Mannens MA, Smigiel R, Hennekam RC.

Hum Mutat. 2011 Jul;32(7):723-8. doi: 10.1002/humu.21505. Epub 2011 Jun 21. Review.

PMID:
21472892
3.

Focal dermal hypoplasia: report of a case with myelomeningocele, Arnold-Chiari malformation and hydrocephalus with a review of neurologic manifestations of Goltz syndrome.

Peters T, Perrier R, Haber RM.

Pediatr Dermatol. 2014 Mar-Apr;31(2):220-4. doi: 10.1111/pde.12267. Epub 2014 Jan 5. Review.

PMID:
24387693
4.

Focal Dermal Hypoplasia.

Sutton VR, Van den Veyver IB.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2008 May 15 [updated 2013 Apr 11].

5.

[Goltz syndrome].

Ishikawa O.

Nihon Rinsho. 2006 Sep 28;Suppl 3:422-5. Review. Japanese. No abstract available.

PMID:
17022579
6.

The Wnt signaling pathway in familial exudative vitreoretinopathy and Norrie disease.

Warden SM, Andreoli CM, Mukai S.

Semin Ophthalmol. 2007 Oct-Dec;22(4):211-7. Review.

PMID:
18097984
7.

Pygopus and the Wnt signaling pathway: a diverse set of connections.

Jessen S, Gu B, Dai X.

Bioessays. 2008 May;30(5):448-56. doi: 10.1002/bies.20757. Review.

PMID:
18404694
8.

Wnt signaling in cartilage development and degeneration.

Chun JS, Oh H, Yang S, Park M.

BMB Rep. 2008 Jul 31;41(7):485-94. Review.

9.

Pathophysiological aspects of Wnt-signaling in endocrine disease.

Schinner S, Willenberg HS, Schott M, Scherbaum WA.

Eur J Endocrinol. 2009 May;160(5):731-7. doi: 10.1530/EJE-08-0831. Epub 2009 Feb 26. Review.

10.
11.

[Goltz syndrome].

Naritomi K.

Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):56-8. Review. Japanese. No abstract available.

PMID:
11057141
12.

Regulation of Wnt protein secretion and its role in gradient formation.

Bartscherer K, Boutros M.

EMBO Rep. 2008 Oct;9(10):977-82. doi: 10.1038/embor.2008.167. Epub 2008 Sep 12. Review.

13.

Wnt signaling and stem cell control.

Nusse R.

Cell Res. 2008 May;18(5):523-7. doi: 10.1038/cr.2008.47. Review.

14.

[Proposal for a protocol for the staging of incontinentia pigmenti in pediatric age].

Portaleone D, Taroni F, Micheli S, Moioli M, Pedrazzini A, Cognizzoli P, Carnelli V.

Minerva Pediatr. 2007 Jun;59(3):255-65. Review. Italian.

PMID:
17519871
15.

Focal dermal hypoplasia: oral and dental findings.

Tejani Z, Batra P, Mason C, Atherton D.

J Clin Pediatr Dent. 2005 Fall;30(1):67-72. Review.

PMID:
16302603
16.

[Dermal hypoplasia, focal].

Kosaki K, Yoshihashi H.

Ryoikibetsu Shokogun Shirizu. 2001;(33):545-7. Review. Japanese. No abstract available.

PMID:
11462561
17.

Focal dermal hypoplasia: a case report and review of literature.

Ogunbiyi AO, Adewole IO, Ogunleye O, Ogunbiyi JO, Ogunseinde OO, Baiyeroju-Agbeja A.

West Afr J Med. 2003 Dec;22(4):346-9. Review.

PMID:
15008304
18.

The use of porcupine inhibitors to target Wnt-driven cancers.

Ho SY, Keller TH.

Bioorg Med Chem Lett. 2015 Dec 1;25(23):5472-6. doi: 10.1016/j.bmcl.2015.10.032. Epub 2015 Oct 23. Review.

PMID:
26522946
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