The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports

Proximal 6q (6q11-q15) deletions are extremely rare and little is known about their phenotypic consequences. Since parents and caregivers now use social media to seek information on rare disorders, the Chromosome 6 Project has successfully collaborated with a Facebook group to collect data on indivi...

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Veröffentlicht in:Eur J Hum Genet
Hauptverfasser: Engwerda, Aafke, Frentz, Barbara, den Ouden, A. Lya, Flapper, Boudien C. T., Swertz, Morris A., Gerkes, Erica H., Plantinga, Mirjam, Dijkhuizen, Trijnie, van Ravenswaaij-Arts, Conny M. A.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer International Publishing 2018
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6138703/
https://ncbi.nlm.nih.gov/pubmed/29904178
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0172-9
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