Nephronophthisis due to mutation in the TMEM67 gene

The urgency of the problem is due to the prevalence and clinical heterogeneity of hereditary cystic kidney diseases. The phenotypic diversity of nephronophthisis and nephronophthisis-related syndromes, which in most cases are characterized by an autosomal recessive type of inheritance, suggests the...

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Bibliographic Details
Main Authors: E. F. Andreeva, N. D. Savenkova
Format: Article
Language:Russian
Published: Ltd. “The National Academy of Pediatric Science and Innovation” 2022-06-01
Series:Rossijskij Vestnik Perinatologii i Pediatrii
Subjects:
Online Access:https://www.ped-perinatology.ru/jour/article/view/1628