22q11.2 Microduplication: An Enigmatic Genetic Disorder.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of pediatric genetics"
DOI: 10.1055/s-0038-1655754
Abstract: Microduplication of 22q11.2 involves having an extra copy at position q11.2 on chromosome 22. Very few cases have been reported but the real incidence may be higher as the absence of obvious clinical signs makes… read more here.
Keywords: microduplication enigmatic; microduplication; 22q11 microduplication; micrognathia ... See more keywords
A Newly Discovered Genetic Disorder Associated With Life-Threatening Aortic Disease in a 6-Year-Old Boy
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Investigative Medicine High Impact Case Reports"
DOI: 10.1177/2324709620909234
Abstract: Aortic aneurysms in children are rare and when present are usually caused by a connective tissue disorder. In this article, we present a case of multiple aortic aneurysms in an adolescent with a novel finding… read more here.
Keywords: discovered genetic; disorder; newly discovered; aortic disease ... See more keywords