Genotype–phenotype relationship in three cases with overlapping 19p13.12 microdeletions

We describe the detailed clinical and molecular characterization of three patients (aged 7, 8(4/12) and 31 years) with overlapping microdeletions in 19p13.12, extending to 19p13.13 in two cases. The patients share the following clinical features with a recently reported 10-year-old girl with a 19p13...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Bonaglia, Maria C, Marelli, Susan, Novara, Francesca, Commodaro, Simona, Borgatti, Renato, Minardo, Grazia, Memo, Luigi, Mangold, Elisabeth, Beri, Silvana, Zucca, Claudio, Brambilla, Daniele, Molteni, Massimo, Giorda, Roberto, Weber, Ruthild G, Zuffardi, Orsetta
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2010
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3002847/
https://ncbi.nlm.nih.gov/pubmed/20648052
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.115
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg