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    • Guidelines & consensus (WG11)
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Home > Our Research Activities > List Of Publications > A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum

A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum

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Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials
CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease
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