A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele

RAI1 is a dosage-sensitive gene whose decreased or increased expression by recurrent and non-recurrent 17p11.2 deletions or duplications causes Smith-Magenis (SMS) or Potocki-Lupski syndromes (PTLS), respectively. Here we report on a 21-year-old female patient showing SMS phenotype who was found to...

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Detalles Bibliográficos
Autores principales: Sironi, Alessandra, Bestetti, Ilaria, Masciadri, Maura, Tumiatti, Francesca, Crippa, Milena, Pantaleoni, Chiara, Russo, Silvia, D’Arrigo, Stefano, Milani, Donatella, Larizza, Lidia, Finelli, Palma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626456/
https://www.ncbi.nlm.nih.gov/pubmed/35821519
http://dx.doi.org/10.1038/s41431-022-01143-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626456/
https://www.ncbi.nlm.nih.gov/pubmed/35821519
http://dx.doi.org/10.1038/s41431-022-01143-5

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