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
| Main Authors: | , , , , , , , , , , , , |
|---|---|
| Format: | Online |
| Language: | English |
| Published: |
BioMed Central
2014
|
| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021606/ |
| id |
pubmed-4021606 |
|---|---|
| recordtype |
oai_dc |
| spelling |
pubmed-40216062014-05-16 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, Hiram Larangeira Fryssira, Helen Isidor, Bertrand Jauch, Anna Joubert, Madeleine Lachmeijer, Augusta M A Zweier, Christiane Moog, Ute Kutsche, Kerstin Research BioMed Central 2014-04-15 /pmc/articles/PMC4021606/ /pubmed/24735900 http://dx.doi.org/10.1186/1750-1172-9-53 Text en Copyright © 2014 van Rahden et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
| repository_type |
Open Access Journal |
| institution_category |
Foreign Institution |
| institution |
US National Center for Biotechnology Information |
| building |
NCBI PubMed |
| collection |
Online Access |
| language |
English |
| format |
Online |
| author |
van Rahden, Vanessa A Rau, Isabella Fuchs, Sigrid Kosyna, Friederike K de Almeida, Hiram Larangeira Fryssira, Helen Isidor, Bertrand Jauch, Anna Joubert, Madeleine Lachmeijer, Augusta M A Zweier, Christiane Moog, Ute Kutsche, Kerstin |
| spellingShingle |
van Rahden, Vanessa A Rau, Isabella Fuchs, Sigrid Kosyna, Friederike K de Almeida, Hiram Larangeira Fryssira, Helen Isidor, Bertrand Jauch, Anna Joubert, Madeleine Lachmeijer, Augusta M A Zweier, Christiane Moog, Ute Kutsche, Kerstin 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 |
| author_facet |
van Rahden, Vanessa A Rau, Isabella Fuchs, Sigrid Kosyna, Friederike K de Almeida, Hiram Larangeira Fryssira, Helen Isidor, Bertrand Jauch, Anna Joubert, Madeleine Lachmeijer, Augusta M A Zweier, Christiane Moog, Ute Kutsche, Kerstin |
| author_sort |
van Rahden, Vanessa A |
| 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 |
| title_short |
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 |
| title_full |
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 |
| title_fullStr |
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 |
| title_full_unstemmed |
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 |
| title_sort |
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 |
| description |
|
| publisher |
BioMed Central |
| publishDate |
2014 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021606/ |
| _version_ |
1612089271349411840 |