Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism

PURPOSE: To describe a family with presumed SOX2 gonadosomatic mosaicism diagnosed upon ophthalmic examination of the proband’s mother. METHODS: The family underwent comprehensive ophthalmic and physical examination. Variant detection was performed using trio exome analysis on peripheral leukocyte D...

Descripción completa

Detalles Bibliográficos
Autores principales: Varela, Malena Daich, Hufnagel, Robert B., Guan, Bin, Blain, Delphine, Sapp, Julie C., Gropman, Andrea L., Alur, Ramakrishna, Johnston, Jennifer J., Biesecker, Leslie G., Brooks, Brian P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8154737/
https://www.ncbi.nlm.nih.gov/pubmed/33719903
http://dx.doi.org/10.1080/13816810.2021.1888127

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8154737/
https://www.ncbi.nlm.nih.gov/pubmed/33719903
http://dx.doi.org/10.1080/13816810.2021.1888127

Ejemplares similares