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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.

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Title: 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: van Rahden, Vanessa A.1 v.van-rahden@uke.de, Rau, Isabella1 i.rau@uke.de, Fuchs, Sigrid1 sfuchs@uke.de, Kosyna, Friederike K.1,2 friederike.kosyna@gmail.com, de Almeida Jr, Hiram Larangeira3 hiramalmeidajr@hotmail.com, Fryssira, Helen4 efrysira@med.uoa.gr, Isidor, Bertrand5,6 Bertrand.ISIDOR@chu-nantes.fr, Jauch, Anna7 anna.jauch@med.uni-heidelberg.de, Joubert, Madeleine8 madeleine.joubert@chu-nantes.fr, Lachmeijer, Augusta M. A.9 AMA.Lachmeijer@vumc.nl, Zweier, Christiane10 Christiane.Zweier@uk-erlangen.de, Moog, Ute7 Ute.Moog@med.uni-heidelberg.de, Kutsche, Kerstin1 kkutsche@uke.de
Source: Orphanet Journal of Rare Diseases. 2014, Vol. 9 Issue 1, p3-27. 25p.
Database: Academic Search Ultimate
Description
ISSN:17501172
DOI:10.1186/1750-1172-9-53