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A case of primary ovarian failure with Nijmegen Breakage a chromosomal instability syndrome
INTRODUCTION: Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive chromosomal instability syndrome, characterized by dysmorphic facial features, intrauterine growth retardation and short stature, recurrent sinopulmonary infections, combined immune deficiency, radiosensitivity, increased r...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10653149/ http://dx.doi.org/10.1210/jcemcr/luac014.050 |