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Fig. 2 | Diagnostic Pathology

Fig. 2

From: Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases

Fig. 2

Case 18: The fetus with osteogenesis imperfecta type II with collagen gene mutation (COL1A2). a Gross anatomy of the aborted fetus, showing the short arms and bending short legs (arrowheads). b X-ray images of the aborted fetus, showing the short and bent femurs, both with fractures (arrowheads). c The fetus carried the c.1072G > A (p.Gly358Ser) mutation in the COL1A2 gene. The Sanger verification revealed that this mutation was new, and was not carried by the parents

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