Pitt-Hopkins syndrome accompanying hypoxic ischemic encephalopathy in a newborn

Autor: Melda Tas, Mervenur Kurtulus, Elı̇f Keles Gulnerman, Canan Turkyilmaz, Ferda Percin, Ebru Ergenekon, Esin Koc
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Popis: 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.
Databáze: OpenAIRE