`autosomal-recessive` ile İlgili Madde Sonuçları

Cystic fibrosis (CF) is a genetic disorder inherited in an autosomal recessive pattern and characterized by multisystem involvement. The fundamental cause of the disease is mutations in the gene encoding the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein. Dysfunction of this gene disrupts chloride and water transport across epithelial cells, leading to the production of thick, sticky secretions in multiple organ systems, particularly the lungs and pancreas. CF is one of the m