Two novel homozygous mutations in NPHP1 lead to late onset end-stage renal disease: a case report of an adult nephronophthisis in a Chinese intermarriage family-Reference-Cited by-同舟云学术

Two novel homozygous mutations in NPHP1 lead to late onset end-stage renal disease: a case report of an adult nephronophthisis in a Chinese intermarriage family

Published:2019-05-16 Issue:1 Volume:20 Page:
ISSN:1471-2369
Container-title:BMC Nephrology
language:en
Short-container-title:BMC Nephrol

Author:

Wang Yiting,Chen Feng,Wang Jiali,Zhao Yingwang,Liu Fang

Funder

National Natural Science Foundation of China

Publisher

Springer Science and Business Media LLC

Subject

Nephrology

Link

http://link.springer.com/content/pdf/10.1186/s12882-019-1372-4.pdf

Reference22 articles.

1. Ala-Mello S, Sankila EM, Koskimies O, de la Chapelle A, Kaariainen H. Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism. J Med Genet. 1998;35(4):279–83.

2. Blowey DL, Querfeld U, Geary D, Warady BA, Alon U. Ultrasound findings in juvenile nephronophthisis. Pediatr Nephrol. 1996;10(1):22–4.

3. Srivastava S, Sayer J. Nephronophthisis. Journal of Pediatric Genetics. 2015;03(02):103–14.

4. Hildebrandt F, Zhou W. Nephronophthisis-associated ciliopathies. J Am Soc Nephrol. 2007;18(6):1855–71.

5. Halbritter J, Porath JD, Diaz KA, Braun DA, Kohl S, Chaki M, Allen SJ, Soliman NA, Hildebrandt F, Otto EA. Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. Hum Genet. 2013;132(8):865–84.

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