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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...
Autores principales: | Writzl, Karin, Mavčič, Blaž, Maver, Aleš, Hodžić, Alenka, Peterlin, Borut |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
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 |
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