X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males-Reference-Cited by-同舟云学术

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X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males

Published:2018-12 Issue:1 Volume:13 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Zhang Xiao,Zhang Yanqin,Zhang Yanmei,Gu Hongbo,Chen Zhe,Ren Lei,Lu Xingxing,Chen Li,Wang Fang,Liu Yuhe,Ding Jie

Funder

National Natural Science Foundation Project

Instituto Nacional de Ciência e Tecnologia Centro de Estudos das Adaptações da Biota Aquática da Amazônia

Beijing key laboratory of molecular diagnosis and study on pediatric genetic diseases

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-018-0974-4.pdf

Reference34 articles.

1. Kashtan CE. Alport syndrome and thin glomerular basement membrane disease. J Am Soc Nephrol. 1998;9(9):1736.

2. Savige J, Gregory M, Gross O, et al. Expert guidelines for the management of alport syndrome and thin basement membrane nephropathy. J Am Soc Nephrol. 2013;24(3):364–75.

3. Barker DF, Hostikka SL, Zhou J, et al. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science. 1990;248(4960):1224–7.

4. Mochizuki T, Lemmink HH, Mariyama M, et al. Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet. 1994;8(1):77–81.

5. Hudson BG, Tryggvason K, Sundaramoorthy M. Alport’s syndrome, Goodpasture's syndrome, and type IV collagen. N Engl J Med. 2009;348(25):2543–56.

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2. Explaining Alport syndrome—lessons from the adult nephrology clinic;Journal of Rare Diseases;2024-05-13

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4. Genetic, Clinical, and Pathologic Backgrounds of Children With X-Linked Alport Syndrome in China: A Monocenter Study;Global Pediatric Health;2024-01

5. Hipoacusia neurosensorial en el Síndrome de Alport: una revisión sistemática;Areté;2023-06-30

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