A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder
Abstract Purpose We aimed to elucidate the underlying disease in a Hungarian family, with only one affected family member, a 16-year-old male Hungarian patient, who developed global developmental delay, cognitive impairment, behavioral problems, short stature, intermittent headaches, recurrent dizzi...
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| Main Authors: | , , , , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2024-01-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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