Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome.

Hugo Hernán Abarca BarrigaMaría Cristina Laso-SalazarDiego Orihuela-Tacuri Jenny Chirinos-SaireAnahí Venero-Nuñez

Published in: BMC pediatrics (2024)

The importance of knowing the etiology in rare genetic disease is essential, not only to determine individual and familial recurrence risk, but also to establish the treatment and prognosis; in this sense, access to a new genomic technology in low- and middle-income countries is essential to shorten the diagnostic odyssey.

Keyphrases

case report
high throughput sequencing
copy number
early onset
genome wide