LRIG2 Mutations Cause Urofacial Syndrome

Urofacial syndrome (UFS) (or Ochoa syndrome) is an autosomal-recessive disease characterized by congenital urinary bladder dysfunction, associated with a significant risk of kidney failure, and an abnormal facial expression upon smiling, laughing, and crying. We report that a subset of UFS-affected...

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Main Authors: Stuart, Helen M., Roberts, Neil A., Burgu, Berk, Daly, Sarah B., Urquhart, Jill E., Bhaskar, Sanjeev, Dickerson, Jonathan E., Mermerkaya, Murat, Silay, Mesrur Selcuk, Lewis, Malcolm A., Olondriz, M. Beatriz Orive, Gener, Blanca, Beetz, Christian, Varga, Rita E., Gülpınar, Ömer, Süer, Evren, Soygür, Tarkan, Özçakar, Zeynep B., Yalçınkaya, Fatoş, Kavaz, Aslı, Bulum, Burcu, Gücük, Adnan, Yue, Wyatt W., Erdogan, Firat, Berry, Andrew, Hanley, Neil A., McKenzie, Edward A., Hilton, Emma N., Woolf, Adrian S., Newman, William G.
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2013
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Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3567269/
https://ncbi.nlm.nih.gov/pubmed/23313374
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.12.002
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