Article
The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports.
European journal of human genetics : EJHG - 1 Oct 2018
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
Abstract excerpt
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 individuals worldwide. Here we describe a cohort of 20 newly identified individuals and 25 literature cases with a...
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