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Galloway Mowat syndrome is a very rare autosomal recessive[1] genetic disorder, consisting of a variety of features including hiatal hernia, microcephaly and nephrotic syndrome.[2]
The exact genetic defect in Galloway Mowat syndrome is yet to be discovered. However, mutations in podocyte proteins, such as nephrin, alpha-actinin 4, and podocin, are associated with proteinuria and nephrotic syndrome. There is reduced expression of synaptopodin, GLEPP1, and nephrin in Galloway-Mowat syndrome, but these are likely secondary to the proteinuria, likely not the proteins mutated in Galloway-Mowat syndrome.[3]
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