Article

Brain MRI evidence of distinct contiguous gene syndrome in 22q13 deletion-related disorders

2026-06-11

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> : Phelan–McDermid syndrome (PMS) is a neurodevelopmental disorder caused by pathogenic variants involving the <italic>SHANK3</italic> gene, a key postsynaptic scaffolding protein regulating synaptic function. <italic>SHANK3</italic> alterations range from sequence variants to large chromosomal deletions on chromosome 22q13. While <italic>SHANK3</italic>...

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Literature Corpus work: 7d5d45a3-5f6c-5753-af34-316b6383c165
DOI: 10.21203/rs.3.rs-9779696/v1

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