Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in FAM126A gene Variant
| Author | dc.contributor.author | Troncoso, Mónica | |
| Author | dc.contributor.author | Balut Oyarzún, Fernanda | |
| Author | dc.contributor.author | Witting Enríquez, Scarlet | |
| Author | dc.contributor.author | Rubilar Parra, Carla | |
| Author | dc.contributor.author | Carrera, Jorge | |
| Author | dc.contributor.author | Cartes, Fabiola | |
| Author | dc.contributor.author | Herrera Cisterna, Luisa | |
| Admission date | dc.date.accessioned | 2021-09-20T13:57:56Z | |
| Available date | dc.date.available | 2021-09-20T13:57:56Z | |
| Publication date | dc.date.issued | 2021 | |
| Cita de ítem | dc.identifier.citation | Clin Case Rep. 2021;9:e04171 | es_ES |
| Identifier | dc.identifier.other | 10.1002/ccr3.4171 | |
| Identifier | dc.identifier.uri | https://repositorio.uchile.cl/handle/2250/181978 | |
| Abstract | dc.description.abstract | It is key to expand the differential diagnosis and consider possible genetic etiologies on a patient with congenital cataracts associated with clinical features, such as leukodystrophy or polyneuropathy. | es_ES |
| Lenguage | dc.language.iso | en | es_ES |
| Publisher | dc.publisher | Wiley | es_ES |
| Type of license | dc.rights | Attribution-NonCommercial-NoDerivs 3.0 Chile | * |
| Link to License | dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/cl/ | * |
| Source | dc.source | Clinical Case Reports | es_ES |
| Keywords | dc.subject | FAM126A gene | es_ES |
| Keywords | dc.subject | Hypomyelination and congenital cataract | es_ES |
| Keywords | dc.subject | White matter disorder | es_ES |
| Título | dc.title | Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in FAM126A gene Variant | es_ES |
| Document type | dc.type | Artículo de revista | |
| Cataloguer | uchile.catalogador | crb | es_ES |
| Indexation | uchile.index | Artículo de publicación ISI | es_ES |
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Except where otherwise noted, this item's license is described as Attribution-NonCommercial-NoDerivs 3.0 Chile