LAMA5 and Microscopic hematuria: The combination of the two COL4/LAMA5 variants was identified in all the severely affected family members while the single pathogenic COL4A4 mutation was found both in the first cousin (III;4) presenting with just episodic microhematuria at the age of 26 years and in two asymptomatic individuals (III;2 and III;3), evaluated at the age of 50 years, allowing us to conclude that the COL4A4 mutation is not sufficient by itself for the phenotype to be displayed.