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Items: 1 to 20 of 149

1.

Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder.

Zlotogora J.

Am J Med Genet. 1999 Jul 16;85(2):194. No abstract available.

PMID:
10406678
2.

Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature.

Nanda A, Alsaleh QA, Al-Sabah H, Marzouk EE, Salam AM, Nanda M, Anim JT.

Pediatr Dermatol. 2008 Jan-Feb;25(1):66-71. doi: 10.1111/j.1525-1470.2007.00586.x. Review.

PMID:
18304158
3.

Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes.

Gupta N, Phadke SR.

Pediatr Dermatol. 2006 May-Jun;23(3):225-30. Review.

PMID:
16780467
4.
6.

Costello syndrome: natural history and differential diagnosis of cutis laxa.

Davies SJ, Hughes HE.

J Med Genet. 1994 Jun;31(6):486-9. Review.

7.

Geroderma osteodysplastica. Report of a new family.

Boente Mdel C, Asial RA, Winik BC.

Pediatr Dermatol. 2006 Sep-Oct;23(5):467-72.

PMID:
17014644
8.

Congenital cutis laxa with ligamentous laxity and delayed development, Dandy-Walker malformation and minor heart and osseous defects.

Biver A, De Rijcke S, Toppet V, Ledoux-Corbusier M, Van Maldergem L.

Clin Genet. 1994 Jun;45(6):318-22. Review.

PMID:
7523003
9.

Autosomal recessive cutis laxa syndrome revisited.

Morava E, Guillard M, Lefeber DJ, Wevers RA.

Eur J Hum Genet. 2009 Sep;17(9):1099-110. doi: 10.1038/ejhg.2009.22. Epub 2009 Apr 29. Review.

10.

Massive cranial osteolysis, skin changes, growth retardation and developmental delay: Gorham syndrome with systemic manifestations?

Girisha KM, Ganesh HK, Rao L, Srilatha PS.

Am J Med Genet A. 2010 Mar;152A(3):759-63. doi: 10.1002/ajmg.a.33309.

PMID:
20186788
12.

Cutis laxa in Kabuki make-up syndrome.

Vaccaro M, Salpietro DC, Briuglia S, Merlino MV, Guarneri F, Dallapiccola B.

J Am Acad Dermatol. 2005 Nov;53(5 Suppl 1):S247-51.

PMID:
16227101
13.

Defective protein glycosylation in patients with cutis laxa syndrome.

Morava E, Wopereis S, Coucke P, Gillessen-Kaesbach G, Voit T, Smeitink J, Wevers R, Grünewald S.

Eur J Hum Genet. 2005 Apr;13(4):414-21.

14.

[Congenital autosomal recessive Cutis laxa Type II A Wrinkly-Skin-Syndrome].

Tantcheva-Poor I, Schuster A, Kornak U, Chelius K, Mauch C.

Klin Padiatr. 2012 Sep;224(5):322-3. doi: 10.1055/s-0032-1312677. Epub 2012 Jul 20. German. No abstract available.

PMID:
22821296
15.

Cutis laxa: a feature of Costello syndrome.

Davies SJ, Hughes HE.

J Med Genet. 1994 Jan;31(1):85. No abstract available.

16.

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.

Morava E, Lefeber DJ, Urban Z, de Meirleir L, Meinecke P, Gillessen Kaesbach G, Sykut-Cegielska J, Adamowicz M, Salafsky I, Ranells J, Lemyre E, van Reeuwijk J, Brunner HG, Wevers RA.

Eur J Hum Genet. 2008 Jan;16(1):28-35. Epub 2007 Oct 31.

17.

Congenital cutis laxa with retardation of growth and development.

Patton MA, Tolmie J, Ruthnum P, Bamforth S, Baraitser M, Pembrey M.

J Med Genet. 1987 Sep;24(9):556-61.

18.

Multiple congenital skin webbing with cutis laxa.

O'Brien BM, Garson OM, Baikie AG, Dooley BJ.

Br J Plast Surg. 1970 Oct;23(4):329-36. No abstract available.

PMID:
4394470
19.

Morphometric analysis of elastic skin fibres from patients with: cutis laxa, anetoderma, pseudoxanthoma elasticum, and Buschke-Ollendorff and Williams-Beuren syndromes.

Ghomrasseni S, Dridi M, Bonnefoix M, Septier D, Gogly G, Pellat B, Godeau G.

J Eur Acad Dermatol Venereol. 2001 Jul;15(4):305-11.

PMID:
11730039
20.

Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.

Hucthagowder V, Sausgruber N, Kim KH, Angle B, Marmorstein LY, Urban Z.

Am J Hum Genet. 2006 Jun;78(6):1075-80. Epub 2006 Apr 10.

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