GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia
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DOI: 10.1111/cge.13390
Abstract: Various genetic defects can cause intellectual and developmental disabilities (IDDs). Often IDD is a symptom of a more complex neurodevelopmental or neurodegenerative syndrome. Identifying syndromic patterns is substantive for diagnostics and for understanding the pathomechanism… read more here.
Keywords: gpt2 mutations; hereditary spastic; microcephaly; spastic paraplegia ... See more keywords