Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

Down syndrome (DS) is one of the most frequent congenital birth defects, and the most common genetic cause of mental retardation. In most cases, DS results from the presence of an extra copy of chromosome 21. DS has a complex phenotype, and a major goal of DS research is to identify genotype–phenoty...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Lyle, Robert, Béna, Frédérique, Gagos, Sarantis, Gehrig, Corinne, Lopez, Gipsy, Schinzel, Albert, Lespinasse, James, Bottani, Armand, Dahoun, Sophie, Taine, Laurence, Doco-Fenzy, Martine, Cornillet-Lefèbvre, Pascale, Pelet, Anna, Lyonnet, Stanislas, Toutain, Annick, Colleaux, Laurence, Horst, Jürgen, Kennerknecht, Ingo, Wakamatsu, Nobuaki, Descartes, Maria, Franklin, Judy C, Florentin-Arar, Lina, Kitsiou, Sophia, Aït Yahya-Graison, Emilie, Costantine, Maher, Sinet, Pierre-Marie, Delabar, Jean M, Antonarakis, Stylianos E
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2009
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986205/
https://ncbi.nlm.nih.gov/pubmed/19002211
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.214
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky