
Novel liver findings in Ornithine Transcarbamylase Deficiency due to Xp11.4-p21.1 microdeletion
Keywords: OTCD; Ornithine transcarbamylase deficiency; PAS; Periodic acid schiff; RP3; Retinitis pigmentosa 3; CMA; Chromosomal microarray analysis; OTCD; Ornithine transcarbamylase deficiency; Xp11.4, Xp21.1 deletion; Post-analytical tool; Hepatocyte inclusions; S