A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies

BACKGROUND: Among the 21 annotated genes at Xq22.2, PLP1 is the only known gene involved in Xq22.2 microdeletion and microduplication syndromes with intellectual disability. Using an atypical microdeletion, which does not encompass PLP1, we implicate a novel gene GLRA4 involved in intellectual disab...

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Detalles Bibliográficos
Autores principales: Labonne, Jonathan D. J., Graves, Tyler D., Shen, Yiping, Jones, Julie R., Kong, Il-Keun, Layman, Lawrence C., Kim, Hyung-Goo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4979147/
https://www.ncbi.nlm.nih.gov/pubmed/27506666
http://dx.doi.org/10.1186/s12883-016-0642-z

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