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We aim to present data obtained from three patients belonging to three unrelated families with an infantile onset demyelinating neuropathy associated to somatic and neurodevelopmental delay and to describe the… Click to show full abstract
We aim to present data obtained from three patients belonging to three unrelated families with an infantile onset demyelinating neuropathy associated to somatic and neurodevelopmental delay and to describe the underlying genetic changes.
Keywords:
mutation causes;
trmt5 mutation;
causes complex;
novel trmt5;
pathology;
demyelinating neuropathy
Journal Title: Neuropathology and Applied Neurobiology
Year Published: 2022
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Journal Title: Neuropathology and Applied Neurobiology
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!