Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes

BACKGROUND: Certain rare syndromes with developmental delay or intellectual disability caused by genomic copy number variants (CNVs), either deletions or duplications, are associated with higher rates of obesity. Current strategies to diagnose these syndromes typically rely on phenotype-driven inves...

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Detalles Bibliográficos
Autores principales: D’Angelo, Carla S, Varela, Monica C, de Castro, Cláudia IE, Kim, Chong A, Bertola, Débora R, Lourenço, Charles M, Perez, Ana Beatriz A, Koiffmann, Celia P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236449/
https://www.ncbi.nlm.nih.gov/pubmed/25411582
http://dx.doi.org/10.1186/s13039-014-0075-6

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