Article

van Rahden, Vanessa A. ; Rau, Isabella ; Fuchs, Sigrid ; Kosyna, Friederike K. ; Larangeira de Almeida Jr, Hiram ; Fryssira, Helen ; Isidor, Bertrand ; Jauch, Anna ; Joubert, Madeleine ; Lachmeijer, Augusta M. A. ; Zweier, Christiane ; Moog, Ute ; Kutsche, Kerstin (2014) 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. Orphanet journal of rare diseases, 9 (53). pp. 1-13. ISSN 1750-1172