De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome

BACKGROUND: Poland Syndrome (PS) is a rare disorder characterized by hypoplasia/aplasia of the pectoralis major muscle, variably associated with thoracic and upper limb anomalies. Familial recurrence has been reported indicating that PS could have a genetic basis, though the genetic mechanisms under...

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Autors principals: Vaccari, Carlotta Maria, Romanini, Maria Victoria, Musante, Ilaria, Tassano, Elisa, Gimelli, Stefania, Divizia, Maria Teresa, Torre, Michele, Morovic, Carmen Gloria, Lerone, Margherita, Ravazzolo, Roberto, Puliti, Aldamaria
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2014
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4051386/
https://ncbi.nlm.nih.gov/pubmed/24885342
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-63
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