17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki–Lupski syndrome

BACKGROUND: Potocki–Lupski syndrome is a microduplication syndrome associated with duplication at 17p11.2. Features include facial dysmorphism, moderate to mild cognitive impairment and behavioural abnormalities including autism spectrum disorders. CASE PRESENTATION: We describe a patient from Sri L...

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Detalles Bibliográficos
Autores principales: Sumathipala, Dulika S., Mandawala, Eranda N., Sumanasena, Samanmalee P., Dissanayake, Vajira H. W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4588678/
https://www.ncbi.nlm.nih.gov/pubmed/26419729
http://dx.doi.org/10.1186/s13104-015-1439-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4588678/
https://www.ncbi.nlm.nih.gov/pubmed/26419729
http://dx.doi.org/10.1186/s13104-015-1439-7

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