Lataa...

Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 ‐10p15.1 and 6q22.31 duplication

Patients presenting with infantile spasms, dysmorphic features, and periventricular nodular heterotopia may benefit from genetic copy number variation microarray, or whole‐exome sequencing to identify candidate genes. This will allow personalized diagnosis and prognostication and the eventual unders...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Clin Case Rep
Päätekijät: Jones, Kevin, Weiss, Shelly K., Minassian, Berge
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: John Wiley and Sons Inc. 2016
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4929804/
https://ncbi.nlm.nih.gov/pubmed/27386127
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.591
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!