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...

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Detalles Bibliográficos
Autores principales: Rouxel, Flavien, Fauré, Julien, Faure, Jean-Michel, Deschamps, Françoise, Burlet, Gilles, Flandrin, Anaig, Couture, Alain, Prodhomme, Olivier, Rendu, John, Willems, Marjolaine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
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

Internet

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

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