Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability

BACKGROUND: While chromosome 1 is the largest chromosome in the human genome, less than two dozen cases of interstitial microdeletions in the short arm have been documented. More than half of the 1p microdeletion cases were reported in the pre-microarray era and as a result, the proximal and distal...

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Detalles Bibliográficos
Autores principales: Labonne, Jonathan D. J., Shen, Yiping, Kong, Il-Keun, Diamond, Michael P., Layman, Lawrence C., Kim, Hyung-Goo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4797196/
https://www.ncbi.nlm.nih.gov/pubmed/26997977
http://dx.doi.org/10.1186/s13039-016-0234-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4797196/
https://www.ncbi.nlm.nih.gov/pubmed/26997977
http://dx.doi.org/10.1186/s13039-016-0234-z

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