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Pitt-Hopkins syndrome accompanying hypoxic ischemic encephalopathy in a newborn.

INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE(2022)

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摘要
Hypoxic-ischemic encephalopathy (HIE) is one of the substantial causes of developmental-cognitive disability in neonates. In this early period, it is difficult to diagnose accompanying or predisposing genetic diseases in HIE patients. Herein, we present a patient with HIE who was diagnosed with Pitt-Hopkins syndrome in the newborn period.
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关键词
hypoventilation, hypoxia, neonate, Pitt-Hopkins syndrome
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