Article
A familial case of severe infantile nephronophthisis explained by oligogenic inheritance.
European journal of medical genetics - 1 Jun 2017
Penchev Valentin, Boueva Anelia, Kamenarova Kunka, Roussinov Dimitar, Tzveova Reni, Ivanova Mariya, Dimitrova Violeta, Kremensky Ivo, Mitev Vanio, Kaneva Radka, Beltcheva Olga
Abstract excerpt
Renal cysts are common malformation during the prenatal and postnatal period and frequent cause of chronic kidney or ESRD. More than 70 genes have been shown to play role in their pathology. Part of them are responsible for the structure and function of the cilia, which assigns a large proportion of the renal cystic diseases in the ciliopathies. Another group of genes responsible for cystic kidneys encodes...
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