Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome

Maternal uniparental disomy of chromosome 7 is present in 5–10% of patients with Silver-Russell syndrome (SRS), and duplication of 7p including GRB10 (Growth Factor Receptor-Bound Protein 10), an imprinted gene that affects pre-and postnatal growth retardation, has been associated with the SRS pheno...

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Detalles Bibliográficos
Autores principales: Catusi, Ilaria, Bonati, Maria Teresa, Mainini, Ester, Russo, Silvia, Orlandini, Eleonora, Larizza, Lidia, Recalcati, Maria Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7698152/
https://www.ncbi.nlm.nih.gov/pubmed/33187293
http://dx.doi.org/10.3390/ijms21228487

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7698152/
https://www.ncbi.nlm.nih.gov/pubmed/33187293
http://dx.doi.org/10.3390/ijms21228487

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