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.
Data and Resources
Additional Info
| Field | Value |
|---|---|
| Source | ISSN: 1750-1172 |
| Author | van Rahden, Vanessa, Rau, Isabella, Fuchs, Sigrid, Kosyna, Friederike, de Almeida, Hiram, Larangeira, Fryssira, Helen, Isidor, Bertrand, Jauch, Anna, Joubert, Madeleine, Lachmeijer, Augusta, M., Zweier, Christiane, Moog, Ute, Kutsche, Kerstin |
| Maintainer | CCSD |
| Last Updated | May 5, 2026, 13:43 (UTC) |
| Created | May 5, 2026, 13:43 (UTC) |
| Identifier | inserm-00981854 |
| Language | en |
| Rights | https://about.hal.science/hal-authorisation-v1/ |
| contributor | Institute of Human Genetics ; Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE) |
| creator | van Rahden, Vanessa |
| date | 2014-04-15T00:00:00 |
| harvest_object_id | 31f44209-2067-44a5-ab41-4c6d85da9b88 |
| harvest_source_id | 3374d638-d20b-4672-ba96-a23232d55657 |
| harvest_source_title | test moissonnage SELUNE |
| metadata_modified | 2025-11-21T00:00:00 |
| relation | info:eu-repo/semantics/altIdentifier/doi/10.1186/1750-1172-9-53 |
| set_spec | type:ART |