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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family

Fig. 2

Radiological investigations. a Individual IV: 1; image shows diffusely thickened and sclerotic skull with increased density of visualized bones b Prominent diffuse increase in bone density in ribs, visualized dorosolumber spine and pelvic bones as well as widening of costochondral junctions. c Individual IV: 3, image shows diffuse dense calvarium with increased density of rest of the visualized bones d Generalized diffuse increase in bone density, mild scoliosis of dorsal spine with convexity towards left side and loss of corticomedullary differentiation

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BMC Medical Genetics

ISSN: 1471-2350

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