Mahmood S, Beetz C, Tahir MM, Imran M, Mumtaz R, Bassmann I, Jahic A, Malik M, Nurnberg G, Hassan SA, Rana S, Nurnberg P, Hubner CA

First HPSE2 missense mutation in urofacial syndrome.

Clin Genet 81:88-92 (2012)
DOI:10.1111/j.1399-0004.2011.01649.x

Pang J, Zhang S, Yang P, Hawkins-Lee B, Zhong J, Zhang Y, Ochoa B, Agundez JA, Voelckel MA, Fisher RB, Gu W, Xiong WC, Mei L, She JX, Wang CY

Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.

Am J Hum Genet 86:957-62 (2010)
DOI:10.1016/j.ajhg.2010.04.016

Daly SB, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, Lewis M, Kerr B, Stuart H, Donnai D, Long DA, Burgu B, Aydogdu O, Derbent M, Garcia-Minaur S, Reardon W, Gener B, Shalev S, Smith R, Woolf AS, Black GC, Newman WG

Mutations in HPSE2 cause urofacial syndrome.

Am J Hum Genet 86:963-9 (2010)
DOI:10.1016/j.ajhg.2010.05.006

Stuart HM, Roberts NA, Burgu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson JE, Mermerkaya M, Silay MS, Lewis MA, Olondriz MB, Gener B, Beetz C, Varga RE, Gulpinar O, Suer E, Soygur T, Ozcakar ZB, Yalcinkaya F, Kavaz A, Bulum B, Gucuk A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG

LRIG2 mutations cause urofacial syndrome.

Am J Hum Genet 92:259-64 (2013)
DOI:10.1016/j.ajhg.2012.12.002