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4 in total

1. Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.

Authors: May-Britt Harmsen; Silvia Azzarello-Burri; M Mar García González; Gabriele Gillessen-Kaesbach; Peter Meinecke; Dietmar Müller; Anita Rauch; Eva Rossier; Eva Seemanova; Christiane Spaich; Bernhard Steiner; Dagmar Wieczorek; Martin Zenker; Kerstin Kutsche
Journal: Eur J Hum Genet Date: 2009-03-11 Impact factor: 4.246

2. Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.

Authors: Vanessa A van Rahden; Erika Fernandez-Vizarra; Malik Alawi; Kristina Brand; Florence Fellmann; Denise Horn; Massimo Zeviani; Kerstin Kutsche
Journal: Am J Hum Genet Date: 2015-03-12 Impact factor: 11.025

3. Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.

Authors: Sarah Vergult; Bart Leroy; Ilse Claerhout; Björn Menten
Journal: Mol Vis Date: 2013-02-06 Impact factor: 2.367

4. Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.

Authors: Vanessa A van Rahden; Isabella Rau; Sigrid Fuchs; Friederike K Kosyna; Hiram Larangeira de Almeida; Helen Fryssira; Bertrand Isidor; Anna Jauch; Madeleine Joubert; Augusta M A Lachmeijer; Christiane Zweier; Ute Moog; Kerstin Kutsche
Journal: Orphanet J Rare Dis Date: 2014-04-15 Impact factor: 4.123

4 in total