12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature

Interstitial deletions of the long arm of chromosome 12 are rare, with a dozen patients carrying a deletion in 12q21 being reported. Recently a critical region (CR) has been delimited and could be responsible for the more commonly described clinical features, such as developmental delay/intellectual...

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Detalles Bibliográficos
Autores principales: Recalcati, Maria Paola, Catusi, Ilaria, Garzo, Maria, Redaelli, Serena, Massimello, Marta, Maitz, Silvia Beatrice, Gentile, Mattia, Ponzi, Emanuela, Orsini, Paola, Zilio, Anna, Montaldi, Annamaria, Calò, Annapaola, Capra, Anna Paola, Briuglia, Silvana, La Rosa, Maria Angela, Grillo, Lucia, Romano, Corrado, Bianca, Sebastiano, Malacarne, Michela, Busè, Martina, Piccione, Maria, Larizza, Lidia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9141874/
https://www.ncbi.nlm.nih.gov/pubmed/35627165
http://dx.doi.org/10.3390/genes13050780

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