PubMed

Harmsen MB, Azzarello-Burri S, García González MM, Gillessen-Kaesbach G, Meinecke P, Müller D, Rauch A, Rossier E, Seemanova E, Spaich C, Steiner B, Wieczorek D, Zenker M, Kutsche K.

Eur J Hum Genet. 2009 Oct;17(10):1207-15. doi: 10.1038/ejhg.2009.40. Epub 2009 Mar 11.

Sharma VM, Ruiz de Luzuriaga AM, Waggoner D, Greenwald M, Stein SL.

Pediatr Dermatol. 2008 Sep-Oct;25(5):548-52. doi: 10.1111/j.1525-1470.2008.00724.x. Review.

Kapur R, Tu EY, Toyran S, Shah P, Vangveeravong S, Lloyd WC 3rd, Edward DP.

Cornea. 2008 Jul;27(6):734-8. doi: 10.1097/QAI.0b013e31815b834d.

Morleo M, Franco B.

J Med Genet. 2008 Jul;45(7):401-8. doi: 10.1136/jmg.2008.058305. Epub 2008 May 7. Review.

Wimplinger I, Shaw GM, Kutsche K.

Mol Vis. 2007 Aug 27;13:1475-82.

Wimplinger I, Rauch A, Orth U, Schwarzer U, Trautmann U, Kutsche K.

Eur J Med Genet. 2007 Nov-Dec;50(6):421-31. Epub 2007 Aug 6.

Cain CC, Saul D, Attanasio L, Oehler E, Hamosh A, Blakemore K, Stetten G.

Prenat Diagn. 2007 Apr;27(4):373-9.

Schluth C, Cossée M, Girard-Lemaire F, Carelle N, Dollfus H, Jeandidier E, Flori E.

Pathol Biol (Paris). 2007 Feb;55(1):29-36. Epub 2006 May 11.

Morleo M, Pramparo T, Perone L, Gregato G, Le Caignec C, Mueller RF, Ogata T, Raas-Rothschild A, de Blois MC, Wilson LC, Zaidman G, Zuffardi O, Ballabio A, Franco B.

Am J Med Genet A. 2005 Aug 30;137(2):190-8.

Moraes CT, Diaz F, Barrientos A.

Biochim Biophys Acta. 2004 Dec 6;1659(2-3):153-9. Review.

Cape CJ, Zaidman GW, Beck AD, Kaufman AH.

Arch Ophthalmol. 2004 Jul;122(7):1070-4. No abstract available.