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Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing

Sexual development is a complex process relying on numerous genes. Disruptions in some of these genes are known to cause differences of sexual development (DSDs). Advances in genome sequencing allowed the discovery of new genes implicated in sexual development, such as PBX1. We present here a fetus...

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Detalles Bibliográficos
Autores principales: Mary, Laura, Leclerc, Delphine, Labalme, Audrey, Bellaud, Pascale, Mazaud-Guittot, Séverine, Dréano, Stéphane, Evrard, Bertrand, Bigand, Antoine, Cauchoix, Aurélie, Loget, Philippe, Lokchine, Anna, Cluzeau, Laurence, Gilot, David, Belaud-Rotureau, Marc-Antoine, Jaillard, Sylvie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956894/
https://www.ncbi.nlm.nih.gov/pubmed/36833200
http://dx.doi.org/10.3390/genes14020273