Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects

BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximately 1:4000 births. Familial autosomal dominant recurrence of the syndrome is detected in about 8-28% of the cases. Aim of this study is to evaluate the intergenerational and intrafamilial...

Descripción completa

Detalles Bibliográficos
Autores principales: Cirillo, Emilia, Giardino, Giuliana, Gallo, Vera, Puliafito, Pamela, Azzari, Chiara, Bacchetta, Rosa, Cardinale, Fabio, Cicalese, Maria Pia, Consolini, Rita, Martino, Silvana, Martire, Baldassarre, Molinatto, Cristina, Plebani, Alessandro, Scarano, Gioacchino, Soresina, Annarosa, Cancrini, Caterina, Rossi, Paolo, Digilio, Maria Cristina, Pignata, Claudio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893549/
https://www.ncbi.nlm.nih.gov/pubmed/24383682
http://dx.doi.org/10.1186/1471-2350-15-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893549/
https://www.ncbi.nlm.nih.gov/pubmed/24383682
http://dx.doi.org/10.1186/1471-2350-15-1

Ejemplares similares