Cargando…
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...
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: | |
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 |
Ejemplares similares
-
De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome
por: Vaccari, Carlotta Maria, et al.
Publicado: (2014) -
Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case
por: Tassano, Elisa, et al.
Publicado: (2015) -
Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion
por: Tassano, Elisa, et al.
Publicado: (2015) -
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs
por: Servetti, Martina, et al.
Publicado: (2021) -
Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)
por: Baldelli, Ilaria, et al.
Publicado: (2020)