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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Enregistré dans:
Détails bibliographiques
Publié dans:BMC Med Genet
Auteurs principaux: 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
Langue:Inglês
Publié: BioMed Central 2016
Sujets:
Research Article
Accès en ligne: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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