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