Fadda A et al. Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype. BMC Med Genet. 2016;17(1):84. PMID: 27855655.
Stuart HM et al. LRIG2 mutations cause urofacial syndrome. Am J Hum Genet. 2013;92(2):259-64. PMID: 23313374.
LRIG2