• Genetic Mutations: From Anemia to Developmental Disorders

RP mutations: RPS19 defects impair 18S rRNA processing, reducing functional 40S subunits and causing Diamond-Blackfan anemia (DBA).

rRNA biogenesis defects: SBDS gene mutations in Shwachman-Diamond syndrome disrupt 60S subunit maturation, leading to pancreatic insufficiency and leukemia predisposition.