Novel p.G1344E mutation in FBN1 is associated with ectopia lentis
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DOI: 10.1136/bjophthalmol-2019-315265
Abstract: Background Ectopia lentis refers to dislocation or subluxation of the crystalline lens. Fibrillin-1, encoded by FBN1, is an important microfibrillar structural component that is specifically required for the suspensory ligament of the lens. FBN1 mutations… read more here.
Keywords: lentis; mutation fbn1; family; ectopia lentis ... See more keywords