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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: LIG4 syndrome: clinical and molecular characterization in a Chinese cohort

Fig. 2

Clinical data of patients with LIG4 syndrome. a: Facial features of P7. b: The axial (1) and coronal (2) CT scan of the chest (P1) showed bilateral lung diffuse lesions with opacification. c: Gastroenterological endoscope examination of P2 demonstrated multiple ulcers of the oropharynx (1), small intestine (2), colon (3) and rectum (4). d: Morphological examination of bone marrow (P6) revealed abnormal hematopoiesis in granulocyte and erythroid series to different extents. Vacuolar degeneration (1), binucleated (2) or giant (3) granulocytes were observed in granulocyte series. Erythroid series were active proliferation, megaloblastic change and occasionally positive PAS staining (4)

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