Clinical description and evaluation of 30 pediatric patients with ultra-rare diseases: A multicenter study with real-world data from Saudi Arabia

OY Muthaffar, NW Alazhary, AS Alyazidi, MA Alsubaie… - Plos one, 2024 - journals.plos.org
Background With the advancement of next-generation sequencing, clinicians are now able
to detect ultra-rare mutations that are barely encountered by the majority of physicians. Ultra …