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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Xehetasun bibliografikoak
Argitaratua izan da:BMC Neurol
Egile Nagusiak: Labonne, Jonathan D. J., Graves, Tyler D., Shen, Yiping, Jones, Julie R., Kong, Il-Keun, Layman, Lawrence C., Kim, Hyung-Goo
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2016
Gaiak:
Case Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4979147/
https://ncbi.nlm.nih.gov/pubmed/27506666
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-016-0642-z
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