147557.G.1

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Country

Saudi Arabia
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Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_022356.4:c.570_571del2
NM_000213.5:c.2855del2
NM_018676.4:c.1091G>A2
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Remarks

Couple with heterozygous variants in ITGB4, P3H1 and THSD1 genes. They had one child with osteogenesis imperfecta and another child with epidermolysis bullosa - both deceased.

References

© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.