Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis

<div>Patient 1. (a) Chromatograms (top: paternally inherited c.767_786del, bottom: maternally inherited c.2177 + 3_2177+6delGAGT). Pedigree (blue: c.767_786del, orange: c.2177 + 3_2177 + 6delGAGT, solid star: ectopia lentis with craniosynostosis). Patient 2. (b) Chromatogram (recessively inherited c.767_786del). Pedigree (blue: c.767_786del, solid triangle: ectopia lentis et pupillae with craniosynostosis, open triangle: isolated ectopia lentis et pupillae).</div>

Case Reports in Genetics

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Figure 1

Figure 1: Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis 