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Parents noticed that their 9 month of infant does not respond to sounds. They brought him to a pediatrician, who noticed white forelock of hair on the infant. Baby had a broad nose, and beautiful blue eyes<br><br>What do you think went wrong during embryogenesis?
Explanation
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Waardenburg syndrome is an autosomal dominantly inherited disorder of neural crest cells. PAX3 protein contains two highly conserved DNA binding domains which play a vital role in the development and differentiation of melanocytes derived from embryonic NC cells.
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Reference
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Hu, Q. et al. Case Report A Novel PAX3 Mutation Associated With Waardenburg Syndrome Type 1. Frontiers in Genetics 12, (2021).
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Option 1
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Is Correct (Option 1):
Abnormal development of neural crest cells
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Option 2
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Is Correct (Option 2):
Abnormal development of neural plate
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Option 3
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Is Correct (Option 3):
Abnormal development of neural tube
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Option 4
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Is Correct (Option 4):
Abnormal optic vesicle
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