Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles

BACKGROUND: Rearrangements of unstable DNA sequences may alter the structural integrity or the copy number of dose-sensitive genes, resulting in copy number variations. They may lead more frequently to deletions, in addition to duplications and/or inversions, which are the underlying pathogenic mech...

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Detalles Bibliográficos
Autores principales: Serra, Gregorio, Antona, Vincenzo, Giuffrè, Mario, Piro, Ettore, Salerno, Sergio, Schierz, Ingrid Anne Mandy, Corsello, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8896361/
https://www.ncbi.nlm.nih.gov/pubmed/35246213
http://dx.doi.org/10.1186/s13052-022-01232-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8896361/
https://www.ncbi.nlm.nih.gov/pubmed/35246213
http://dx.doi.org/10.1186/s13052-022-01232-7

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