Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.
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PMID: 31129566
Review.
RESULTS: Key clinical features included ocular abnormalities with risk for retinal detachment, sensorineural hearing loss, reduced palmar creases, finger contractures, prominent knees, scoliosis, low bone mineral density, recognisable craniofacial dysmorphisms, developmental dela …
RESULTS: Key clinical features included ocular abnormalities with risk for retinal detachment, sensorineural hearing loss, reduced palmar cr …