Novel pathogenic splicing mutation in COL11A1 in a patient with Stickler syndrome verified by minigene splicing assay
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DOI: 10.3389/fgene.2025.1642604
Abstract: Background Stickler syndrome (STL) is a group of related connective tissue disorders characterized by heterogeneous clinical presentations with varying degrees of orofacial, ocular, skeletal, and auditory abnormalities. However, this condition is difficult to diagnose on… read more here.
Keywords: minigene splicing; col11a1; novel pathogenic; pathogenic splicing ... See more keywords