Optic nerve abnormalities in female-restricted Wieacker-Wolff syndrome by a novel variant in the ZC4H2 gene-Reference-Cited by-同舟云学术

Optic nerve abnormalities in female-restricted Wieacker-Wolff syndrome by a novel variant in the ZC4H2 gene

Published:2023-07-31 Issue:5 Volume:44 Page:465-468
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Ibarra-Ramírez Marisol¹^ORCID,Fernandez-de-Luna Marissa L²^ORCID,Campos-Acevedo Luis D¹^ORCID,Arenas-Estala Joel¹^ORCID,Martínez-de-Villarreal Laura E¹^ORCID,Rodríguez-Garza Claudia³^ORCID,DeLagarza-Pineda Oscar⁴^ORCID,Mohamed-Noriega Jibran²^ORCID

Affiliation:

1. Department of Genetics, University Hospital and Faculty of Medicine, Autonomous University of Nuevo Leon (UANL), San Nicolas de los Garza, Mexico

2. Department of Ophthalmology, University Hospital and Faculty of Medicine, Autonomous University of Nuevo Leon (UANL), San Nicolas de los Garza, Mexico

3. Department of Radiology and Imaging, University Hospital and Faculty of Medicine, Autonomous University of Nuevo Leon (UANL), San Nicolas de los Garza, Mexico

4. Department of Neurology, University Hospital and Faculty of Medicine, Autonomous University of Nuevo Leon (UANL), San Nicolas de los Garza, Mexico

Funder

no funding associated

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2023.2237578

Reference11 articles.

1. Wieacker-Wolff syndrome with associated cleft palate in a female case

2. A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia

3. Localization of the gene for Wieacker-Wolff syndrome in the pericentromeric region of the X chromosome

4. Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

5. MRI measurements of the normal pediatric optic nerve pathway