Congenital disorder of glycosylation caused by mutation of ATP6AP1 gene (c.1036G>A) in a Chinese infant: A case report

Figure 1 Liver tissue hematoxylin and eosin staining and Masson staining. A: Hematoxylin and eosin staining of liver tissue suggested the presence of pseudo lobules. Original magnification (100 ×); B: Collagen fiber staining (Masson) of liver tissue in green suggested fibrous hyperplasia. Original magnification (100 ×).

Figure 2 Genetic testing results of the family. The patient carries the c.1036G>A (p.E346K) mutation in the ATP6AP1 gene. The red arrow refers to mutated nucleotide c.1036G>A in the patient. The genotypes of this locus in his parents were normal.