Assessment of copy number variations in 120 patients with Poland syndrome

BACKGROUND: Poland Syndrome (PS) is a rare congenital disorder presenting with agenesis/hypoplasia of the pectoralis major muscle variably associated with thoracic and/or upper limb anomalies. Most cases are sporadic, but familial recurrence, with different inheritance patterns, has been observed. T...

Descripción completa

Detalles Bibliográficos
Autores principales: Vaccari, Carlotta Maria, Tassano, Elisa, Torre, Michele, Gimelli, Stefania, Divizia, Maria Teresa, Romanini, Maria Victoria, Bossi, Simone, Musante, Ilaria, Valle, Maura, Senes, Filippo, Catena, Nunzio, Bedeschi, Maria Francesca, Baban, Anwar, Calevo, Maria Grazia, Acquaviva, Massimo, Lerone, Margherita, Ravazzolo, Roberto, Puliti, Aldamaria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5123256/
https://www.ncbi.nlm.nih.gov/pubmed/27884122
http://dx.doi.org/10.1186/s12881-016-0351-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5123256/
https://www.ncbi.nlm.nih.gov/pubmed/27884122
http://dx.doi.org/10.1186/s12881-016-0351-x

Ejemplares similares