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Dr Anne-Françoise Roux

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Member info

Dr Anne-Françoise Roux

France

Working Group(s): Retinal Rare Eye Diseases (WG1)

Team

Pr Isabelle MEUNIER

France

Retinal Rare Eye Diseases (WG1)
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Dr Catherine Blanchet

France

Retinal Rare Eye Diseases (WG1)
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Dr Agathe Robertie

France

Retinal Rare Eye Diseases (WG1)
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HCP Center

Labelized in 2004, MAOLYA is a national reference center for the diagnosis and management of multisensory inherited diseases with isolated or...

contact

Reference Center Rare Diseases ‘Genetic Sensory Diseases’, MAOLYA, Montpellier, France

Hôpital Gui de ChauliacService Ophtalmologie80, avenue Augustin Fliche 1er étage, bureau 1414
34 295 Montpellier Cedex 5
France

Scientific publications

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

We found that homozygosity for a truncating variant in CEP162, a centrosome and microtubule-associated protein required for transition zone...

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