PMC3759778_01
Photograph of the Patient 2 Demonstrating Posture
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The second patient was the brother of the first child who was visited by us at 4.4 years of age (Figure 2).
Liver Enzymes Fluctuations in Different Ages of Patient # 2
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Fluctuations in liver enzymes are seen in different ages (Table 1, Figure 3).
Radiographic Findings: X-ray Films Demonstrating Beaking of Thoracic Vertebrae, Generalized Epiphyseal Dysplasia and Osteopenia of the Ribs, Hand, Knees, and Pelvis (Skeletal System)
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Bone survey reported small and irregular epiphysis compatible with multiple epiphyseal dysplasias (Figure 4).
Electrophoregrams Illustrates. A) Normal, B) Abnormal sequences; The arrow shows the site of mutation in the patient
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Sequencing analysis showed that the patient is homozygous for a novel missense mutation, Q166R (c.604A > G; p.Glu166R), in exon 3 of the EIF2AK3 gene (Figure 5).