FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Vitreoretinal degeneration ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		0.010 GeneticVariation disease BEFREE We report the results of routine FBN1 sequencing for children from inbred families referred with nontraumatic lens subluxation without cataract or vitreoretinal degeneration. 24698609 2014