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. 2018 Apr 24;27(13):2357–2366. doi: 10.1093/hmg/ddy144

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Figure 1. — Pedigree, clinical features and identification of mutations of patients. (A, B) Pedigrees and facial appearance of the patients. m1: c.6499C>T: p.Arg2167Trp, m2: c.15delG. Squares: males; circles: females. Filled symbols represent affected individuals. (C) MRI (left panel) and ocular CT scanning (right panel) of the Patient 1. (D) CT scanning Ocular (top panel) and of the Patient 2 showing the gourd-shaped cyst with the absence of lens of the right eye (top panel) and left-sided renal agenesis (bottom panel). (E) Sequence chromatograms from Sanger sequencing analysis of FREM2 gene showing the homozygous mutation c.6499T>C in the Patient 1, and the heterozygous state in her mother and father (top panel); the Patient 2 is compound heterozygote for the maternal deletion c.15delG and the paternal c.6499T>C variants. The mutations are indicated by triangle.