Fig. 1 | Journal of Human Genetics

Fig. 1

From: Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping

Fig. 1

Pedigree of the studied family. The distribution of the affected individuals in the family suggests an autosomal dominant mode of inheritance. It is unknown whether patient I-1 had been diagnosed with lens dislocation, but it seems reasonable to assume that he was the founder of the causative mutation in this family and that the acute ocular hypertension that caused blindness was due to EL, as were several descendants. Patient II-1, who died at 47 years of age due to systemic infection, had no ophthalmological abnormalities

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