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

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...

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Vydáno v:J Neurodev Disord
Hlavní autoři: Bissell, Stacey, Wilde, Lucy, Richards, Caroline, Moss, Jo, Oliver, Chris
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2018
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5795277/
https://ncbi.nlm.nih.gov/pubmed/29329513
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s11689-017-9221-x
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