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- W2464804570 abstract "Abstract: Autonomic dysfunction can be associated with pupillary abnormalities. We describe a rare association of tonic pupils, congenital central hypoventilation syndrome, and Hirschsprung disease in a newborn with a mutation in the PHOX2B gene, a key regulator of neural crest cells. Hirschsprung disease is characterized by the congenital absence of neural crest–derived intrinsic ganglion cells. Tonic pupils may result from an abnormality of the ciliary ganglion, another structure of neural crest origin. The close association of these conditions in this child suggests a common abnormality in neural crest migration and differentiation." @default.
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- W2464804570 date "2016-12-01" @default.
- W2464804570 modified "2023-09-25" @default.
- W2464804570 title "Congenital Tonic Pupils Associated With Congenital Central Hypoventilation Syndrome and Hirschsprung Disease" @default.
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- W2464804570 doi "https://doi.org/10.1097/wno.0000000000000405" @default.
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