First Libyan Children with SLC20A2 Mutations and Fahr’s Disease
In a groundbreaking study that has ramifications for pediatric neurology, a research team in Libya has revealed the first documented ...
Tag: rare genetic disorders
Whole-genome Sequencing Unveils Insights into 9p Syndromes
In a groundbreaking study that leverages the power of whole-genome sequencing, researchers have unveiled critical insights into chromosome 9p syndromes, ...
Neonatal Hypophosphatasia: Unraveling a Rare Genetic Disorder
In a striking revelation in pediatric medicine, a recent case report has highlighted neonatal hypophosphatasia, an exceptionally rare genetic disorder ...
