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

  • 2025/01/21
  • 再生時間： 38 分
  • ポッドキャスト

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

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  • 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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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
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