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Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract
BACKGROUND: Lowe syndrome is a rare disease characterized by the association of congenital cataract, hypotonia, followed by global psychomotor delay and intellectual disability, as well as progressive renal dysfunction, and renal failure occurring at around 20 years of age. CASE PRESENTATION: We dis...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9768307/ https://www.ncbi.nlm.nih.gov/pubmed/36568675 http://dx.doi.org/10.1016/j.heliyon.2022.e12210 |