Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONO-associated X-linked syndromic intellectual developmental disorder

The NONO gene encodes a nuclear protein involved in transcriptional regulation, RNA synthesis and DNA repair. Hemizygous loss-of function, de novo or maternally inherited variants in NONO have been associated with an X-linked syndromic intellectual developmental disorder-34 (OMIM # 300967), characte...

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Detalles Bibliográficos
Autores principales: Writzl, Karin, Mavčič, Blaž, Maver, Aleš, Hodžić, Alenka, Peterlin, Borut
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10390693/
https://www.ncbi.nlm.nih.gov/pubmed/37533431
http://dx.doi.org/10.3389/fgene.2023.1167054

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10390693/
https://www.ncbi.nlm.nih.gov/pubmed/37533431
http://dx.doi.org/10.3389/fgene.2023.1167054

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