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Later, hiPSCs were described to contain genomic abnormalities, including gene copy number variation [ 63, 64], point mutations [ 65] and chromosomal duplications [ 66] (Table 2).
This property, which can lead to a variety of genomic abnormalities, including point mutations, copy number changes and structural abnormalities such as translocations, seems to be a fertile area for synthetic lethal interactions.
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Genomic imbalances are a major cause of congenital and developmental abnormalities including dysmorphic features, mental retardation and developmental delay, and multiple congenital anomalies.
One patient had midline abnormalities, including bilateral optic nerve hypoplasia.
CMR abnormalities, including LAV.
Echocardiography revealed no valvular abnormalities, including vegetation.
All brain abnormalities including infarcts and bleedings were recorded.
Renal abnormalities, including hematuria, proteinuria, and structural defects.
Observed abnormalities included.
These abnormalities include anaemia, bleeding and granulocyte and platelet dysfunction.
When comparing the severity of MRI abnormalities between groups, cartilage abnormalities included cartilage WORMS scores = 1 (Table 1).
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