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Reduced anogenital distance, hematuria and left renal hypoplasia in a patient with 13q33.1–34 deletion: case report and literature review
BACKGROUND: 13q33–q34 microdeletions are rare chromosomal aberrations associated with a high risk of developmental disability, facial dysmorphism, cardiac defects and other malformation of organs. It is necessary to collect and report evidence of this rare chromosome mutation to improve the prognosi...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7330938/ https://www.ncbi.nlm.nih.gov/pubmed/32616040 http://dx.doi.org/10.1186/s12887-020-02205-7 |