Author:
Margari Lucia,Colonna Annalisa,Craig Francesco,Gentile Mattia,Giannella Giustina,Lamanna Anna Linda,Legrottaglie Anna Rosi
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology, and Child Health
Reference21 articles.
1. Happle R, Daniëls O, Koopman RJ: MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome. Am J Med Genet. 1993, 47: 710-713. 10.1002/ajmg.1320470525.
2. Enright F, Campbell P, Stallings RL, Hall K, Green AJ, Sweeney E, Barnes L, Watson R: Xp22.3 microdeletion in a 19-year-old girl with clinical features of MLS syndrome. Pediatr Dermatol. 2003, 20: 153-157. 10.1046/j.1525-1470.2003.20213.x.
3. 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: Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases. Am J Med Genet Part A. 2005, 137A: 190-198. 10.1002/ajmg.a.30864.
4. Wimplinger I, Rauch A, Orth U, Schwarzer U, Trautmann U, Kutsche K: Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome. Eur J Med Genet. 2007, 50: 421-431. 10.1016/j.ejmg.2007.07.004.
5. Wimplinger I, Shaw GM, Kutsche K: HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?. Mol Vis. 2007, 13: 1475-1482.
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