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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...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer International Publishing
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138703/ https://www.ncbi.nlm.nih.gov/pubmed/29904178 http://dx.doi.org/10.1038/s41431-018-0172-9 |