Add to ORKGLoss-of-function mutations of the MECP2 gene at Xq28 are associated with Rett syndrome in females and with syndromic and nonsyndromic forms of mental retardation (MR) in males. By array comparative genomic hybrid-ization (array-CGH), we identified a small duplication at Xq28 in a large family with a severe form of MR associated with progressive spasticity. Screening by real-time quantitation of 17 additional patients with MR who have similar phenotypes revealed three more duplications. The duplications in the four patients vary in size from 0.4 to 0.8 Mb and harbor several genes, which, for each duplication, include the MR-related L1CAM and MECP2 genes. The proximal breakpoints are located within a 250-kb region centromeric of L1CAM, wherea...
Methyl CpG binding protein 2 (MECP2) is located at Xq28 and is a multifunctional gene with ubiquitou...
Duplications in Xq28 involving the methyl CpG binding protein 2 gene (MECP2) have been described in ...
Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males wi...
Loss-of-function mutations of the MECP2 gene at Xq28 are associated with Rett syndrome in females an...
Loss-of-function mutations of the MECP2 gene at Xq28 are associated with Rett syndrome in females an...
Duplications in Xq28 involving MECP2 have been described in patients with severe mental retardation,...
Duplications in Xq28 involving MECP2 have been described in patients with severe mental retardation,...
Duplications in Xq28 involving MECP2 have been described in patients with severe mental retardation,...
Loss-of-function mutations of MECP2 are responsible for Rett syndrome (RTT), an X-linked neurodevelo...
Duplications leading to functional disomy of chromosome Xq28, including MECP2 as the critical dosage...
Following the recent discovery that the methyl-CpG binding protein 2 (MECP2) gene located on Xq28 is...
International audienceFollowing the recent discovery that the methyl-CpG binding protein 2 (MECP2) g...
Heterozygous mutations in the X-linked MECP2 gene cause Rett syndrome, a severe neurodevelopmental d...
Heterozygous mutations in the X-linked MECP2 gene cause Rett syndrome, a severe neurodevelopmental d...
Heterozygous mutations in the X-linked MECP2 gene cause Rett syndrome, a severe neurodevelopmental d...
Methyl CpG binding protein 2 (MECP2) is located at Xq28 and is a multifunctional gene with ubiquitou...
Duplications in Xq28 involving the methyl CpG binding protein 2 gene (MECP2) have been described in ...
Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males wi...
Loss-of-function mutations of the MECP2 gene at Xq28 are associated with Rett syndrome in females an...
Loss-of-function mutations of the MECP2 gene at Xq28 are associated with Rett syndrome in females an...
Duplications in Xq28 involving MECP2 have been described in patients with severe mental retardation,...
Duplications in Xq28 involving MECP2 have been described in patients with severe mental retardation,...
Duplications in Xq28 involving MECP2 have been described in patients with severe mental retardation,...
Loss-of-function mutations of MECP2 are responsible for Rett syndrome (RTT), an X-linked neurodevelo...
Duplications leading to functional disomy of chromosome Xq28, including MECP2 as the critical dosage...
Following the recent discovery that the methyl-CpG binding protein 2 (MECP2) gene located on Xq28 is...
International audienceFollowing the recent discovery that the methyl-CpG binding protein 2 (MECP2) g...
Heterozygous mutations in the X-linked MECP2 gene cause Rett syndrome, a severe neurodevelopmental d...
Heterozygous mutations in the X-linked MECP2 gene cause Rett syndrome, a severe neurodevelopmental d...
Heterozygous mutations in the X-linked MECP2 gene cause Rett syndrome, a severe neurodevelopmental d...
Methyl CpG binding protein 2 (MECP2) is located at Xq28 and is a multifunctional gene with ubiquitou...
Duplications in Xq28 involving the methyl CpG binding protein 2 gene (MECP2) have been described in ...
Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males wi...