Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The FAOR syndrome is an autosomal recessive disorder caused by mutations of the LRP2 gene. The clinical features include diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria.
Endocytotic disturbances of proximal tubular function
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Donnai-Barrow syndrome
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LRP2
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Imerslund-Grasbeck syndrome
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