Mutations in WDR4 as a new cause of Galloway-Mowat syndrome

INTRODUCTION: Galloway-Mowat syndrome (GAMOS) is a phenotypically heterogeneous disorder characterized by neurodevelopmental defects combined with renal-glomerular disease, manifesting with proteinuria. To identify additional monogenic disease causes, we subjected three affected siblings of an India...

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Julkaisussa:Am J Med Genet A
Päätekijät: Braun, Daniela A., Shril, Shirlee, Sinha, Aditi, Schneider, Ronen, Tan, Weizhen, Ashraf, Shazia, Hermle, Tobias, Jobst-Schwan, Tilman, Widmeier, Eugen, Majmundar, Amar J., Daga, Ankana, Warejko, Jillian K., Nakayama, Makiko, Schapiro, David, Chen, Jing, Airik, Merlin, Rao, Jia, Schmidt, Johanna Magdalena, Hoogstraten, Charlotte A., Hugo, Hannah, Meena, Jitendra, Lek, Monkol, Laricchia, Kristen M., Bagga, Arvind, Hildebrandt, Friedhelm
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2018
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6289609/
https://ncbi.nlm.nih.gov/pubmed/30079490
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.40489
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