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6q21–22 deletion syndrome with interrupted aortic arch

Interstitial deletion of 6q21–22 has been previously reported in 11 individuals, who presented with intellectual disability, facial dysmorphism, cardiac abnormality, cerebellar hypoplasia and dysplasia of the corpus callosum. Here, we report the first instance of a patient with 6q21–22 deletion pres...

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Dades bibliogràfiques
Publicat a:Hum Genome Var
Autors principals: Matsumoto, Ayumi, Nozaki, Yasuyuki, Minami, Takaomi, Jimbo, Eriko F, Shiraishi, Hirohiko, Yamagata, Takanori
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2015
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785536/
https://ncbi.nlm.nih.gov/pubmed/27081529
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.15
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