Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q. Genetics in Medicine, 2014; DOI: 10.1038/gim.2014.86 ...

Jacobsen syndrome (JS) is a rare, inherited disorder, characterized by facial and skull dysmorphism, mental retardation, and platelet abnormalities. Paris-Trousseau syndrome (PTS) is a platelet ...

Jacobsen syndrome affects around one in 100,000 newborns. Physical symptoms include: Large head Wide-set, droopy eyes Small, low-set ears Pointed looking forehead Broad nose Thin upper lip ...

Jacobsen syndrome is caused by a defect of chromosome 11. Common symptoms of the syndrome are delayed development and motor skills, and distinctive facial features such as a large head, pointy ...

About half of children born with Jacobsen syndrome, a rare inherited disease, experience social and behavioral issues consistent with autism spectrum disorders. Researchers at University of ...

Jacobsen syndrome (JBS) is a rare congenital disorder caused by a terminal deletion of the long arm of chromosome 11. A subset of patients exhibit social behavioural problems that meet the diagnostic ...

Jacobsen syndrome is a rare chromosomal disorder caused by deletions in the long arm of human chromosome 11, resulting in multiple developmental defects including congenital heart defects. Combined ...

PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking. Nature Communications, 2016; 7: 10861 DOI: 10.1038/NCOMMS10861 ...