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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
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  Data: 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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  Data: <searchLink fieldCode="AR" term="%22van+Rahden%2C+Vanessa+A%2E%22">van Rahden, Vanessa A.</searchLink><relatesTo>1</relatesTo><i> v.van-rahden@uke.de</i><br /><searchLink fieldCode="AR" term="%22Rau%2C+Isabella%22">Rau, Isabella</searchLink><relatesTo>1</relatesTo><i> i.rau@uke.de</i><br /><searchLink fieldCode="AR" term="%22Fuchs%2C+Sigrid%22">Fuchs, Sigrid</searchLink><relatesTo>1</relatesTo><i> sfuchs@uke.de</i><br /><searchLink fieldCode="AR" term="%22Kosyna%2C+Friederike+K%2E%22">Kosyna, Friederike K.</searchLink><relatesTo>1,2</relatesTo><i> friederike.kosyna@gmail.com</i><br /><searchLink fieldCode="AR" term="%22de+Almeida+Jr%2C+Hiram+Larangeira%22">de Almeida Jr, Hiram Larangeira</searchLink><relatesTo>3</relatesTo><i> hiramalmeidajr@hotmail.com</i><br /><searchLink fieldCode="AR" term="%22Fryssira%2C+Helen%22">Fryssira, Helen</searchLink><relatesTo>4</relatesTo><i> efrysira@med.uoa.gr</i><br /><searchLink fieldCode="AR" term="%22Isidor%2C+Bertrand%22">Isidor, Bertrand</searchLink><relatesTo>5,6</relatesTo><i> Bertrand.ISIDOR@chu-nantes.fr</i><br /><searchLink fieldCode="AR" term="%22Jauch%2C+Anna%22">Jauch, Anna</searchLink><relatesTo>7</relatesTo><i> anna.jauch@med.uni-heidelberg.de</i><br /><searchLink fieldCode="AR" term="%22Joubert%2C+Madeleine%22">Joubert, Madeleine</searchLink><relatesTo>8</relatesTo><i> madeleine.joubert@chu-nantes.fr</i><br /><searchLink fieldCode="AR" term="%22Lachmeijer%2C+Augusta+M%2E+A%2E%22">Lachmeijer, Augusta M. A.</searchLink><relatesTo>9</relatesTo><i> AMA.Lachmeijer@vumc.nl</i><br /><searchLink fieldCode="AR" term="%22Zweier%2C+Christiane%22">Zweier, Christiane</searchLink><relatesTo>10</relatesTo><i> Christiane.Zweier@uk-erlangen.de</i><br /><searchLink fieldCode="AR" term="%22Moog%2C+Ute%22">Moog, Ute</searchLink><relatesTo>7</relatesTo><i> Ute.Moog@med.uni-heidelberg.de</i><br /><searchLink fieldCode="AR" term="%22Kutsche%2C+Kerstin%22">Kutsche, Kerstin</searchLink><relatesTo>1</relatesTo><i> kkutsche@uke.de</i>
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  Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 2014, Vol. 9 Issue 1, p3-27. 25p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=95645256
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              Text: 2014
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