Výsledky vyhledávání - "Loredana Santarini"

Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: A comparison with previously described cases

Autor: Valeria Politi, Danila Sollima, Barbara Sinigaglia, Sergio Tempesta, Loredana Santarini, Luciano Bovicelli, Marina Stefani, Sara Ghezzo, Roberta Cernetti, Orsetta Zuffardi, Antonino Restuccia, Bommina Celso, Roberto Ciccone, Federica Balducci, Cinzia Marzocchi

Publikováno v: European Journal of Medical Genetics. 51:639-645

We report on a child with mild mental retardation, hypotelorism, blepharophimosis, face slight asymmetry and partial hypoplasia of corpus callosum, with an interstitial deletion of a chromosome 15. The deletion was molecularly characterized by array-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcae2069704eaa9b79a6eafc96726928
https://doi.org/10.1016/j.ejmg.2008.07.010

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání