Publications

Daly SB et al. Mutations in HPSE2 cause urofacial syndrome. Am J Hum Genet. 2010;86(6):963-9. PMID: 20560210.

Mahmood S et al. First HPSE2 missense mutation in urofacial syndrome. Clin Genet. 2012;81(1):88-92. PMID: 21332471.

Pang J et al. Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome. Am J Hum Genet. 2010;86(6):957-62. PMID: 20560209.

Roberts NA et al. Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder. Kidney Int. 2019;95(5):1138-1152. PMID: 30885509.

Stuart HM et al. Urinary tract effects of HPSE2 mutations. J Am Soc Nephrol. 2015;26(4):797-804. PMID: 25145936.