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Year Number of Results
1993 1
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2015 1
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PubMed for id: 1617227

8 results

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Page 1
Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.
Braun DA, Shril S, Sinha A, Schneider R, Tan W, Ashraf S, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Daga A, Warejko JK, Nakayama M, Schapiro D, Chen J, Airik M, Rao J, Schmidt JM, Hoogstraten CA, Hugo H, Meena J, Lek M, Laricchia KM, Bagga A, Hildebrandt F. Braun DA, et al. Am J Med Genet A. 2018 Nov;176(11):2460-2465. doi: 10.1002/ajmg.a.40489. Epub 2018 Aug 6. Am J Med Genet A. 2018. PMID: 30079490 Free PMC article.
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, Smith JD, Tran L, Al Turki S, Chioza BA, Cross H, Harlalka GV, Hurles ME, Maroofian R, Heaps AD, Morton MC, Stempak L, Hildebrandt F, Sadowski CE, Zaritsky J, Campellone K, Morton DH, Wang H, Crosby A, Strauss KA. Jinks RN, et al. Brain. 2015 Aug;138(Pt 8):2173-90. doi: 10.1093/brain/awv153. Epub 2015 Jun 11. Brain. 2015. PMID: 26070982 Free PMC article.
Galloway-Mowat syndrome.
Akhtar N, Kiran S, Hafeez F. Akhtar N, et al. J Coll Physicians Surg Pak. 2008 Aug;18(8):520-1. J Coll Physicians Surg Pak. 2008. PMID: 18798594