Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature

The NFIA (nuclear factor I/A) gene encodes for a transcription factor belonging to the nuclear factor I family and has key roles in various embryonic differentiation pathways. In humans, NFIA is the major contributor to the phenotypic traits of “Chromosome 1p32p31 deletion syndrome”. We report on tw...

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Detalles Bibliográficos
Autores principales: Bertini, Veronica, Cambi, Francesca, Orsini, Alessandro, Bonuccelli, Alice, Fiorini, Aureliano, Santangelo, Andrea, Scacciati, Massimo, Elia, Maurizio, Galesi, Ornella, Peroni, Diego, Valetto, Angelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777632/
https://www.ncbi.nlm.nih.gov/pubmed/36553517
http://dx.doi.org/10.3390/genes13122249

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777632/
https://www.ncbi.nlm.nih.gov/pubmed/36553517
http://dx.doi.org/10.3390/genes13122249

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