CONGENITAL CENTRAL HYPOVENTILATION SYNDROME ASSOCIATED WITH HIRSCHSPRUNG DISEASE: THE IMPORTANCE OF DIFFERENTIAL AND EARLY DIAGNOSIS

Congenital central hypoventilation syndrome (CCHS, OMIM #209880), also known as Ondine's curse is characterized by episodes of central apnea, which is a dysfunction of the autonomic nervous system (ANS), occurring soon after birth or in the first month of life. Mutations in the PHOX2B gene, loc...

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Veröffentlicht in:	Residência Pediátrica 2023
Hauptverfasser:	Antunes, Rafaela, Pasian, Ana Carolina, Costa, Ana Karolina, Silva, Bianca, Caetano, Leonardo, Silva, Laura
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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