Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population

• Główni autorzy: Daniela Gois Meneses (Autor), Fábia Regina dos Santos (Autor), Anne Jardim Botelho (Autor), Luciana Mota Bispo (Autor), Camilla Guerra Matos (Autor), Vynicius Goltran Sobral Propheta (Autor), Alexia Ferreira Rodrigues (Autor), Géssica Uruga Oliveira (Autor), Angela Maria da Silva (Autor), Ricardo Queiroz Gurgel (Autor)
• Format: Książka
• Wydane: BMC, 2024-07-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Abstract Introduction In highly multiracial populations with inadequate newborn screening, knowledge of the various phenotypic presentations of Cystic Fibrosis (CF) can help reach an early diagnosis. This study aims to describe phenotypes and genotypes at the time of CF diagnosis in a state in the N...