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...

Descripción completa

Detalles Bibliográficos
Autores principales: Matsumoto, Ayumi, Nozaki, Yasuyuki, Minami, Takaomi, Jimbo, Eriko F, Shiraishi, Hirohiko, Yamagata, Takanori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785536/
https://www.ncbi.nlm.nih.gov/pubmed/27081529
http://dx.doi.org/10.1038/hgv.2015.15

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785536/
https://www.ncbi.nlm.nih.gov/pubmed/27081529
http://dx.doi.org/10.1038/hgv.2015.15

Ejemplares similares