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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...

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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

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