Chaserr syndrome
WebFraser syndrome is a rare disorder that affects development starting before birth. Characteristic features of this condition include eyes that are completely covered by skin … WebMar 10, 2024 · The genetic generalized epilepsies (GGEs) have been proved to generate from genetic impact by twin studies and family studies. The genetic mechanisms of generalized epilepsies are always updating over time. Although the genetics of GGE is complex, there are always new susceptibility genes coming up as well as copy number …
Chaserr syndrome
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WebMay 30, 2024 · PHACE stands for: (P)osterior fossa and other structural brain malformations; large (H)emangiomas of the face, neck, and/or scalp; anatomical … Webstructure, and parts of Chaserr sequence are conserved throughout vertebrates (Fig. 1a), which makes it one of the most conserved mammalian lncRNAs9,26. According to RefSeq annotation, the last exon of Chaserr in mouse overlaps Chd2; however, according to RNA-seq and 3P-seq data from various tissues, the predominant Chaserr isoform ends ~500 bp
WebCHARGE syndrome is a disorder that affects many areas of the body. CHARGE is an abbreviation for several of the features common in the disorder: coloboma, heart defects, atresia choanae (also known as … WebOverview. CHARGE syndrome is a recognizable genetic syndrome with known pattern of features. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. …
WebMale, age 16, with Au-Kline syndrome caused by a change in the HNRNPK gene. Read More. Participant 146 . Female, age 18, with seizures, regression, and brain abnormalities (cortical dysplasia, brain atrophy), ... global developmental delay and atrial septal defect caused by a change in CHASERR ...
WebIs expressed in brain; embryo; liver; spleen; and thymus. Orthologous to human CHASERR (CHD2 adjacent suppressive regulatory RNA). [provided by Alliance of Genome Resources, Apr 2024]
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