A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine patients, including six probands; two with de novo deletions, two who inherited the deletion from an affected parent, and two with unknown inheritance. The...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Sharp, Andrew J, Mefford, Heather C, Li, Kelly, Baker, Carl, Skinner, Cindy, Stevenson, Roger E, Schroer, Richard J, Novara, Francesca, De Gregori, Manuela, Ciccone, Roberto, Broomer, Adam, Casuga, Iris, Wang, Yu, Xiao, Chunlin, Barbacioru, Catalin, Gimelli, Giorgio, Bernardina, Bernardo Dalla, Torniero, Claudia, Giorda, Roberto, Regan, Regina, Murday, Victoria, Mansour, Sahar, Fichera, Marco, Castiglia, Lucia, Failla, Pinella, Ventura, Mario, Jiang, Zhaoshi, Cooper, Gregory M, Knight, Samantha JL, Romano, Corrado, Zuffardi, Orsetta, Chen, Caifu, Schwartz, Charles E, Eichler, Evan E
Format: Artigo
Langue:Inglês
Publié: 2008
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2365467/
https://ncbi.nlm.nih.gov/pubmed/18278044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.93
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires