Associated Papers
Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.
Fadda A et al.
Bmc Medical Genetics, 2016
Clinical and genetic characteristics for the Urofacial Syndrome (UFS).
Tu Y et al.
International Journal of Clinical and Experimental Pathology, 2014
LRIG2 mutations cause urofacial syndrome.
Stuart HM et al.
American Journal of Human Genetics, 2013
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