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Commentary on "Ultra-rare severe kidney dysplasia mimicking salt-wasting tubulopathy associated with TFCP2L1 gene variants".

作者信息

Khan Noaman, Ahmad Sameed, Ullah Muneeb

机构信息

Saidu Medical College, Mingora Swat, Pakistan.

出版信息

Pediatr Nephrol. 2025 Jul 18. doi: 10.1007/s00467-025-06900-4.

DOI:10.1007/s00467-025-06900-4
PMID:40681709
Abstract
摘要

相似文献

1
Commentary on "Ultra-rare severe kidney dysplasia mimicking salt-wasting tubulopathy associated with TFCP2L1 gene variants".
Pediatr Nephrol. 2025 Jul 18. doi: 10.1007/s00467-025-06900-4.
2
Ultra-rare severe kidney dysplasia mimicking salt-wasting tubulopathy associated with TFCP2L1 gene variants.罕见的严重肾发育不良，酷似与TFCP2L1基因变异相关的失盐性肾小管病。
Pediatr Nephrol. 2025 Jun 26. doi: 10.1007/s00467-025-06804-3.
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Cochrane Database Syst Rev. 2023 Aug 30;8(8):CD015311. doi: 10.1002/14651858.CD015311.

本文引用的文献

1
Ultra-rare severe kidney dysplasia mimicking salt-wasting tubulopathy associated with TFCP2L1 gene variants.罕见的严重肾发育不良，酷似与TFCP2L1基因变异相关的失盐性肾小管病。
Pediatr Nephrol. 2025 Jun 26. doi: 10.1007/s00467-025-06804-3.
2
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
3
Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans.
人类肾脏和尿路先天性异常（CAKUT）的单基因病因。
Pediatr Nephrol. 2014 Apr;29(4):695-704. doi: 10.1007/s00467-013-2684-4. Epub 2014 Jan 8.