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Novel features of 3q29 deletion syndrome: Results from the 3q29 registry

3q29 deletion syndrome is caused by a recurrent, typically de novo heterozygous 1.6 Mb deletion, but because incidence of the deletion is rare (1 in 30,000 births) the phenotype is not well described. To characterize the range of phenotypic manifestations associated with 3q29 deletion syndrome, we h...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Glassford, Megan R., Rosenfeld, Jill A., Freedman, Alexa A., Zwick, Michael E., Mulle, Jennifer G.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4849199/
https://ncbi.nlm.nih.gov/pubmed/26738761
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37537
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