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Holoprosencephaly: A Genetic Analysis

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Holoprosencephaly: A Genetic Analysis
Holoprosencephaly or HPE is a genetic disorder that affects the brain, face, and sometimes the body. This genetic mutation is present while the child is still in the embryonic stage of development in the mother’s womb. The most identifiable mutation is caused by the addition of chromosome thirteen or trisomy thirteen. In other cases HPE is caused by abnormalities in the genes SHH, SIX3, TGIF, ZIC2, PTCH1, FOXH1, NODAL, CDON, and GLI2. These genes play an important role in the embryo’s development in the womb. When these genes malfunction and cause major problems in the baby. HPE has three different severity spectrum and can cause other disorders. Alobar, Semilobar, and Lobar are the different levels of severity. Alobar is the most

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