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A novel link between the cadherins, semaphorins and aniridia is revealed and a novel pathway that may contribute to iris and foveal hypoplasia in patients with pathogenic PAX6 variants is suggested.
It is shown that pre-differentiation culture medium impacts the developmental potential of induced pluripotent stem cells (iPSCs), with StemFit medium and Matrigel embedding outperforming mTeSR Plus medium in generating robust somite-like structures.
The study shows the importance of a complete clinical and genetic diagnosis to enable accurate diagnosis and genetic counselling for affected individuals and reports a novel variant c.985del p.(His329Thrfs*57) associated with PHARC syndrome.
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