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...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5123256/
https://ncbi.nlm.nih.gov/pubmed/27884122
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0351-x
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