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Article

The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison.

Journal of neurodevelopmental disorders - 10 Jan 2018

Bissell Stacey, Wilde Lucy, Richards Caroline, Moss Jo, Oliver Chris

Abstract excerpt

BACKGROUND: Potocki-Lupski syndrome (PTLS) and Smith-Magenis syndrome (SMS) are related genomic disorders, as duplication 17p11.2 (associated with PTLS) is the reciprocal recombination product of the SMS microdeletion. While SMS has a relatively well-delineated behavioural phenotype, the behavioural profile in PTLS is less well defined, despite purported associations with autism spectrum disorder (ASD) and the...

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Identifiers

PMID: 29329513
DOI: 10.1186/s11689-017-9221-x
PMCID: PMC5795277

Genes

SMS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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