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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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Pubblicato in:Cureus
Autori principali: Chowdhury, Waliul, Patak, Pooja, Chowdhury, Farjahan J, Ijaz, Hasnan M, Zafar, Tehmina, Chatla, Nick, Khiami, Ahmad
Natura: Artigo
Lingua:Inglês
Pubblicazione: Cureus 2018
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6324868/
https://ncbi.nlm.nih.gov/pubmed/30648076
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7759/cureus.3543
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