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. - van Rahden, Vanessa A.; Rau, Isabella; Fuchs, Sigrid; Kosyna, Friederike K.; de Almeida Jr, Hiram Larangeira; Fryssira, Helen; Isidor, Bertrand; Jauch, Anna; Joubert, Madeleine; Lachmeijer, Augusta M. A.; Zweier, Christiane; Moog, Ute; et al. (Orphanet Journal of Rare Diseases, 2014)