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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2008
Pynciau:
Article
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg