Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract

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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Bibliographic Details
Main Authors: Flavien Rouxel, Julien Fauré, Jean-Michel Faure, Françoise Deschamps, Gilles Burlet, Anaig Flandrin, Alain Couture, Olivier Prodhomme, John Rendu, Marjolaine Willems
Format: Article
Language:English
Published: Elsevier 2022-12-01
Series:Heliyon
Subjects:
Fetus
OCRL
X-linked
Lowe syndrome
Isolated cataract
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844022034983

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http://www.sciencedirect.com/science/article/pii/S2405844022034983

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