LRIG2 mutations cause urofacial syndrome.

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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Bibliographic Details
Main Authors: Stuart, H, Roberts, N, Burgu, B, Daly, S, Urquhart, J, Bhaskar, S, Dickerson, J, Mermerkaya, M, Silay, MS, Lewis, M, Olondriz, M, Gener, B, Beetz, C, Varga, R, Gülpınar, O, Süer, E, Soygür, T, Ozçakar, Z, Yalçınkaya, F, Kavaz, A, Bulum, B, Gücük, A, Yue, W, Erdogan, F, Berry, A
Format: Journal article
Language:English
Published: 2013

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