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A Rare Case of 15q11.2 Microdeletion Syndrome with Atypical Features: Diagnostic Dilemma

Burnside Butler syndrome or 15q11.2 microdeletion syndrome is a relatively rare chromosomal abnormality that is recently being recognized. Current diagnostic techniques like chromosomal microarray analysis (CMA) have profoundly contributed to currently reported cases. The diagnostic dilemma is that...

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Detalles Bibliográficos
Autores principales:	Chowdhury, Waliul, Patak, Pooja, Chowdhury, Farjahan J, Ijaz, Hasnan M, Zafar, Tehmina, Chatla, Nick, Khiami, Ahmad
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2018
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324868/ https://www.ncbi.nlm.nih.gov/pubmed/30648076 http://dx.doi.org/10.7759/cureus.3543

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