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OFD1 : One gene, several disorders

The OFD1 protein is necessary for the formation of primary cilia and left–right asymmetry establishment but additional functions have also been ascribed to this multitask protein. When mutated, this protein results in a variety of phenotypes ranging from multiorgan involvement, such as OFD type I (O...

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Detalles Bibliográficos
Autores principales: Pezzella, Nunziana, Bove, Guglielmo, Tammaro, Roberta, Franco, Brunella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9303915/
https://www.ncbi.nlm.nih.gov/pubmed/35112477
http://dx.doi.org/10.1002/ajmg.c.31962