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