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Series 3 Episode 9. Ru Kovvuri and Rhian Clissold Cognitive and medical impacts of the HNF1B deletion syndrome

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Manage episode 462280990 series 3528389
Content provided by Andrew Hattersley and Maggie Shepherd, Andrew Hattersley, and Maggie Shepherd. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by Andrew Hattersley and Maggie Shepherd, Andrew Hattersley, and Maggie Shepherd or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://ppacc.player.fm/legal.

Ru Kovvuri explains about her battle to get a diagnosis and support for her daughter who had multiple medical problems and learning difficulties as a result of a deletion of the HNF1B gene. Rhian Clissold discusses her research to improve the diagnosis of the HNF1B syndrome and recognise the associated learning difficulties seen with loss (deletion) but not the spelling mistakes (mutations) in the HNF1B gene.

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39 episodes

Artwork
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Manage episode 462280990 series 3528389
Content provided by Andrew Hattersley and Maggie Shepherd, Andrew Hattersley, and Maggie Shepherd. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by Andrew Hattersley and Maggie Shepherd, Andrew Hattersley, and Maggie Shepherd or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://ppacc.player.fm/legal.

Ru Kovvuri explains about her battle to get a diagnosis and support for her daughter who had multiple medical problems and learning difficulties as a result of a deletion of the HNF1B gene. Rhian Clissold discusses her research to improve the diagnosis of the HNF1B syndrome and recognise the associated learning difficulties seen with loss (deletion) but not the spelling mistakes (mutations) in the HNF1B gene.

Send us a text

  continue reading

39 episodes

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