• Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation
• First report of a novel missense CLDN19 mutations causing familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a Chinese family
• Idiopathic hypercalciuria with bilateral macular colobomata: a new variant of oculo-renal syndrome
• Infantile idiopathic hypercalciuria, high congenital myopia, and atypical macular coloboma: a new oculo-renal syndrome?
• Michaelis-Manz syndrome. A case report
• Renal magnesium wasting with hypercalciuria, nephrocalcinosis and ocular disorders
• Utility of optical coherence tomography in a case of bilateral congenital macular coloboma