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Items: 16

1.

Angioma serpiginosum is not caused by PORCN mutations.

Happle R.

Eur J Hum Genet. 2009 Jul;17(7):881-2; author reply 882. doi: 10.1038/ejhg.2009.55. Epub 2009 Apr 1. No abstract available.

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.

Goltz syndrome and PORCN: A view from Europe.

Happle R.

Am J Med Genet C Semin Med Genet. 2016 Mar;172C(1):21-3. doi: 10.1002/ajmg.c.31469. Epub 2016 Jan 22. Review.

PMID:
26799923
4.

[Goltz syndrome].

Ishikawa O.

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

PMID:
17022579
5.

Linear and whorled pigmentation.

Harre J, Millikan LE.

Int J Dermatol. 1994 Aug;33(8):529-37. Review. No abstract available.

PMID:
7960343
6.

[Goltz syndrome].

Naritomi K.

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

PMID:
11057141
7.

Electronmicroscopic observation of the basement membrane zone in focal dermal hypoplasia.

Lee IJ, Cha MS, Kim SC, Bang D.

Pediatr Dermatol. 1996 Jan-Feb;13(1):5-9. Review.

PMID:
8919515
8.

Livedo (livedoid) vasculitis and the factor V Leiden mutation: additional evidence for abnormal coagulation.

Calamia KT, Balabanova M, Perniciaro C, Walsh JS.

J Am Acad Dermatol. 2002 Jan;46(1):133-7. Review.

PMID:
11756961
9.

Dominant disorders with multiple organ involvement.

Kegel MF.

Dermatol Clin. 1987 Jan;5(1):205-19. Review.

PMID:
3549076
10.

Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature.

Smigiel R, Jakubiak A, Lombardi MP, Jaworski W, Slezak R, Patkowski D, Hennekam RC.

Am J Med Genet A. 2011 May;155A(5):1102-5. doi: 10.1002/ajmg.a.33895. Epub 2011 Apr 11. Review.

PMID:
21484999
11.

Angioma serpiginosum with extensive cutaneous involvement.

Katta R, Wagner A.

J Am Acad Dermatol. 2000 Feb;42(2 Pt 2):384-5. Review.

PMID:
10640940
12.

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
13.

[A new case of Goltz's syndrome].

Malfait Y, Decroix J, Vandaele R, Bourlond A.

Ann Dermatol Venereol. 1989;116(10):715-8. Review. French. No abstract available.

PMID:
2558604
14.

[A case of focal dermal hypoplasia--a report of partial expressed form with a review of literatures].

Aso K, Miura Y.

Nihon Hifuka Gakkai Zasshi. 1988 Mar;98(3):333-9. Review. Japanese. No abstract available.

PMID:
3045375
15.

Incontinentia pigmenti (Bloch-Sulzberger syndrome).

Landy SJ, Donnai D.

J Med Genet. 1993 Jan;30(1):53-9. Review. No abstract available.

16.

[Focal dermal hypoplasia (Goltz's syndrome). Review of the literature and clinical contribution].

Bucci E, Mignogna MD, Lo Muzio L, Bucci P.

Minerva Stomatol. 1989 Apr;38(4):439-43. Review. Italian.

PMID:
2659958

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