Genetic analysis explains rare disease severity, points to possible treatment
Researchers at Washington University School of Medicine in St. Louis have uncovered why some patients with a rare genetic ...
Medical Dialogues11 天
Primary Ciliary Dyskinesia in Childhood: Study Reveals High Burden of ENT Morbidity
USA: A recent study has shed light on the progression of otologic and nasal symptoms in children with primary ciliary ...
Mirage News7 天
Genetic Clues Reveal Rare Disease Severity, Treatment Path
Normal lung tissue is shown on the left. On the right is lung tissue from a person with primary ciliary dyskinesia with a ...
Potential modifier gene identified as cause of ciliary pathology in retinitis pigmentosa ...
More information: Noelia Baz-Redón et al, Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and ...