A novel exomal ATRX mutation with preferential transmission to offspring: A case report and review of the literature for transmission ratio distortion in ATRX families

The present case report describes an Italian family with three affected probands, who exhibited serious mental disability, which has not been associated with other anomalies, except with slight facial dysmorphism. Molecular multigenic analysis for intellectual disability identified a previously unre...

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Detalles Bibliográficos
Autores principales: Stabile, Mariano, Colavito, Davide, Del Giudice, Elda, Rispoli, Anna F., Ingenito, Marina C., Naumova, Anna K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7646821/
https://www.ncbi.nlm.nih.gov/pubmed/33173999
http://dx.doi.org/10.3892/mmr.2020.11574

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7646821/
https://www.ncbi.nlm.nih.gov/pubmed/33173999
http://dx.doi.org/10.3892/mmr.2020.11574

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