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Items: 12

1.

AEC syndrome caused by a novel p63 mutation and demonstrating erythroderma followed by extensive depigmentation.

Berk DR, Crone K, Bayliss SJ.

Pediatr Dermatol. 2009 Sep-Oct;26(5):617-8. doi: 10.1111/j.1525-1470.2009.00997.x.

PMID:
19840326
2.

Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder.

Clements SE, Techanukul T, Holden ST, Mellerio JE, Dorkins H, Escande F, McGrath JA.

Br J Dermatol. 2010 Sep;163(3):624-9. doi: 10.1111/j.1365-2133.2010.09859.x. Review.

PMID:
20491771
3.

Skin erosions and wound healing in ankyloblepharon-ectodermal defect-cleft lip and/or palate.

Siegfried E, Bree A, Fete M, Sybert VP.

Arch Dermatol. 2005 Dec;141(12):1591-4. Review. No abstract available.

PMID:
16365264
4.

Vomer aplasia in a patient carrying a de novo mutation of the TP63 gene (3q27).

Schindler A, Guazzarotti L, Mameli C, Urbani E, Mozzanica F, Guerrini L, Zuccotti GV.

Int J Pediatr Otorhinolaryngol. 2013 Sep;77(9):1606-8. doi: 10.1016/j.ijporl.2013.06.027. Review.

PMID:
23906991
5.

The p63 gene in EEC and other syndromes.

Brunner HG, Hamel BC, Van Bokhoven H.

J Med Genet. 2002 Jun;39(6):377-81. Review.

6.

P63 gene mutations and human developmental syndromes.

Brunner HG, Hamel BC, Bokhoven Hv Hv.

Am J Med Genet. 2002 Oct 15;112(3):284-90. Review.

PMID:
12357472
7.

Modeling AEC-New approaches to study rare genetic disorders.

Koch PJ, Dinella J, Fete M, Siegfried EC, Koster MI.

Am J Med Genet A. 2014 Oct;164A(10):2443-54. doi: 10.1002/ajmg.a.36455. Review.

8.

[Pili torti et canaliculi in ectodermal dysplasia].

Trüeb RM, Spycher MA, Schumacher F, Burg G.

Hautarzt. 1994 Jun;45(6):372-7. Review. German.

PMID:
8071068
9.
10.

Mutations in the p53 homolog p63: allele-specific developmental syndromes in humans.

van Bokhoven H, McKeon F.

Trends Mol Med. 2002 Mar;8(3):133-9. Review.

PMID:
11879774
11.

'Double trouble': diagnostic challenges in genetic skin disorders.

Kiritsi D, Valari M, Mileounis K, Bruckner-Tuderman L, Has C.

Br J Dermatol. 2015 Jan;172(1):276-8. doi: 10.1111/bjd.13159. Review. No abstract available.

PMID:
24902867
12.

Congenital erosive and vesicular dermatosis: a new case and review of the literature.

Mashiah J, Wallach D, Leclerc-Mercier S, Bodemer C, Hadj-Rabia S.

Pediatr Dermatol. 2012 Nov-Dec;29(6):756-8. doi: 10.1111/j.1525-1470.2011.01663.x. Review.

PMID:
22211514

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