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A Rare Case of Mosaic Ring Turner Syndrome with Horseshoe Kidney
Rearranged X chromosomes in Turner syndrome (TS) generally present with a mild phenotype, but in cases of ring X chromosomes, the incidence of intellectual disability and other congenital abnormalities can be significantly higher depending on the size of the ring and the involvement of X-inactive sp...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9635367/ https://www.ncbi.nlm.nih.gov/pubmed/36341020 http://dx.doi.org/10.4103/jhrs.jhrs_110_22 |