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

from One in Six Billion · host Andrew Hattersley and Maggie Shepherd

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 a text

Episode metadata supplied by the publisher feed · Published Jan 21, 2025

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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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