Pure interstitial dup(6)(q22.31q22.31) – a case report

‘Pure’ interstitial duplication of chr6q is rare. The varying size of duplication encompassing 6q22.31 is associated with the expressivity of dysmorphism and autism. Here, we report a unique case with facial dysmorphism, developmental delay, complex neurological impairment and spasticity unrelated t...

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Detalles Bibliográficos
Autores principales: Sheth, Frenny, Trivedi, Sunil, Andrieux, Joris, Blouin, Jean-Louis, Sheth, Jayesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4347966/
https://www.ncbi.nlm.nih.gov/pubmed/25637059
http://dx.doi.org/10.1186/s13052-015-0113-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4347966/
https://www.ncbi.nlm.nih.gov/pubmed/25637059
http://dx.doi.org/10.1186/s13052-015-0113-y

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