Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype-Reference-Cited by-同舟云学术

Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype

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:

Lin Pei-Yi,Tseng Min-Hua,Zenker Martin,Rao Jia,Hildebrandt Friedhelm,Lin Shih-Hua,Lin Chun-Chen,Chang Jui-Hsing,Hsu Chyong-Hsin,Lee Ming-Dar,Lin Shuan-Pei,Tsai Jeng-Daw

Funder

National Institutes of Health

Publisher

Springer Science and Business Media LLC

Subject

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

Link

http://link.springer.com/content/pdf/10.1186/s13023-018-0961-9.pdf

Reference22 articles.

1. Galloway WH, Mowat AP. Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs. J Med Genet. 1968;5(4):319–21.

2. Sano H, Miyanoshita A, Watanabe N, Koga Y, Miyazawa Y, Yamaguchi Y, et al. Microcephaly and early-onset nephrotic syndrome--confusion in Galloway-Mowat syndrome. Pediatr Nephrol. 1995;9(6):711–4.

3. Meyers KE, Kaplan P, Kaplan BS. Nephrotic syndrome, microcephaly, and developmental delay: three separate syndromes. Am J Med Genet. 1999;82(3):257–60.

4. Colin E, Huynh Cong E, Mollet G, Guichet A, Gribouval O, Arrondel C, et al. Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. Am J Hum Genet. 2014;95(6):637–48.

5. Ben-Omran T, Fahiminiya S, Sorfazlian N, Almuriekhi M, Nawaz Z, Nadaf J, et al. Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. J Med Genet. 2015;52(6):381–90.

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