Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery

BACKGROUND: Intellectual disability (ID) is a clinically important disease and a most prevalent neurodevelopmental disorder. The etiology and pathogenesis of ID are poorly recognized. Exome sequencing revealed a homozygous missense mutation in the POLR3B gene in a consanguineous family with three In...

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Detalles Bibliográficos
Autores principales: Saghi, Mostafa, InanlooRahatloo, Kolsoum, Alavi, Afagh, Kahrizi, Kimia, Najmabadi, Hossein
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9014605/
https://www.ncbi.nlm.nih.gov/pubmed/35436926
http://dx.doi.org/10.1186/s12920-022-01237-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9014605/
https://www.ncbi.nlm.nih.gov/pubmed/35436926
http://dx.doi.org/10.1186/s12920-022-01237-5

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