Expanding the novel MAPKAPK5 –related developmental disorder's genotype–phenotype correlation: Patient report and 19 months of follow‐up

This study aimed to widen the knowledge of a recently identified, autosomal‐recessive, multiple congenital anomalies syndrome to date observed in only other three children. This is the second report of biallelic mutations in MAPKAPK5 whose impairment during human development has been associated with...

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Detalles Bibliográficos
Autores principales: Vecchio, Davide, Cocciadiferro, Dario, Macchiaiolo, Marina, Gonfiantini, Michaela Veronika, Agolini, Emanuele, Matraxia, Marta, Carboni, Alessia, Coretti, Antonella, Villani, Andrea, Panfili, Filippo Maria, Dentici, Maria Lisa, Buonuomo, Paola Sabrina, Rana, Ippolita, Colafati, Giovanna Stefania, Digilio, Maria Cristina, Novelli, Antonio, Bartuli, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Short Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545400/
https://www.ncbi.nlm.nih.gov/pubmed/35575217
http://dx.doi.org/10.1111/cge.14150

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