NDP-Related Retinopathies - GeneReviews® - NCBI Bookshelf Disease characteristics. NDP-related retinopathies are characterized by a spectrum of fibrous and vascular changes of the retina at birth that progress through childhood or adolescence to cause varying degrees of visual impairment. The m....
MECP2 Duplication Syndrome - GeneReviews® - NCBI Bookshelf Disease characteristics. The MECP2 duplication syndrome is a severe neurodevelopmental disorder characterized by infantile hypotonia, delayed psychomotor development leading to severe intellectual disability, poor speech development, pro... HV ...
X-linked methyl CpG binding protein (MeCP2) gene mutations in children with rett syndrome: Correlation with clinical severity of gastrointestinal symptoms gastrointestinalhomeostatic synaptic plasticityMeCP2nitric oxideRett syndromeBackgroundRett syndrome (RTT) is a neurological diStaines C Cuffari,A Darbar...
GeneReviews. 2009, [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=xlmr] Google Scholar Villard L, Fontes M: Alpha-thalassemia/mental retardation syndrome, X-linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032. European Journal of Human Genetics. 2002, 10: ...
MECP2 Duplication Syndrome - GeneReviews® - NCBI Bookshelf MECP2 duplication syndrome is 100% penetrant in males. Occasionally females have been described with a MECP2 duplication and related clinical findings, often associated with concomitant X-chromosomal abnormalities that prevent inactivation of...