Metabolic mysteries: Developmental delay, hepatoblastoma ...

What this episode covers

A child with severe developmental delay and an early-onset tumour sets the stage for a remarkable case of genetic investigation. In this episode, Sally Ann Lynch and Alfonso D’Alessio uncover how functional testing transformed an uncertain variant into a key diagnostic insight. Read the article: https://doi.org/10.1002/ajmg.a.64275

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Frequently Asked Questions

How long is this episode of JIMD Podcasts?

This episode is 7 minutes long.

When was this JIMD Podcasts episode published?

This episode was published on December 9, 2025.

What is this episode about?

A child with severe developmental delay and an early-onset tumour sets the stage for a remarkable case of genetic investigation. In this episode, Sally Ann Lynch and Alfonso D’Alessio uncover how functional testing transformed an uncertain variant...

Can I download this JIMD Podcasts episode?

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