17p13.3 Microdeletion: Insights on Genotype-Phenotype Correlation

Microdeletions in the chromosomal region 17p13.3 are associated with neuronal migration disorders, and PAFAB1H1 is the main gene involved. The largest genomic imbalances, including the YWHAE and CRK genes, cause more severe structural abnormalities of the brain and other associated dysmorphic featur...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Mol Syndromol
Main Authors: Barros Fontes, Marshall I., dos Santos, Ana P., Rossi Torres, Fábio, Lopes-Cendes, Iscia, Cendes, Fernando, Appenzeller, Simone, Kawasaki de Araujo, Tânia, Lopes Monlleó, Isabella, Gil-da-Silva-Lopes, Vera L.
Format: Artigo
Jezik:Inglês
Izdano: S. Karger AG 2017
Teme:
Original Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5260540/
https://ncbi.nlm.nih.gov/pubmed/28232781
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000452753
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