Turner Syndrome Mosaicism 45,X/46,XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian Case

Turner syndrome (gonadal dysgenesis with short stature and sterility) is characterized by chromosomal karyotype 45,X in 50% of cases or by mosaicism (45,X/46,XX and 45,X/46,XY) in 30–40% or X structural defects (deletions, long arm isochromosome, ring chromosome). When mosaic Turner syndrome (TS) oc...

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Detalles Bibliográficos
Autores principales: Lamanna, Bruno, Vinciguerra, Marina, Dellino, Miriam, Cascella, Gabriele, Cazzato, Gerardo, Macorano, Enrica, Malvasi, Antonio, Scacco, Salvatore, Cicinelli, Ettore, Loizzi, Vera, Vimercati, Antonella, Cormio, Gennaro, Paduano, Francesco, Cascardi, Eliano, Tatullo, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9692496/
https://www.ncbi.nlm.nih.gov/pubmed/36430887
http://dx.doi.org/10.3390/ijms232214408

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