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Fig. 3 | Diagnostic Pathology

Fig. 3

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

Fig. 3

Case 19: The fetus with achondrogenesis. a Gross anatomy of the aborted fetus, showing the markedly short arms and legs (arrowheads), with a giant skull (arrow). b X-ray images of the aborted fetus, showing the severe short limb (arrowheads), and the defective ossification of the spine, sciatic, pubic and iliac bone (arrow). c The fetus carried the c.3013G > A (p.Gly1005Ser) mutation in the COL2A1 gene. The Sanger verification revealed that this mutation was new, and was not carried by the parents

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Diagnostic Pathology

ISSN: 1746-1596

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