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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Veröffentlicht in:BMC Med Genet
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2016
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Research Article
Online Zugang: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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